| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
102700 |
ADA |
adenosine deaminase |
100 |
608958 |
AAH1 |
YNL141W |
Adenine AminoHydrolase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|InParanoid |
5 |
9 |
Yes |
Yes
|
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2 |
615937 |
AKT3 |
v-akt murine thymoma viral oncogene homolog 3 |
10000 |
611223 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA |
300863 |
HDAC6 |
histone deacetylase 6 |
10013 |
300272 |
HDA1 |
YNL021W |
Histone DeAcetylase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E |
603511 |
DNAJB6 |
DnaJ (Hsp40) homolog, subfamily B, member 6 |
10049 |
611332 |
HLJ1 |
YMR161W |
HomoLogous to E. coli dnaJ protein |
DiOPT |
Ensembl Compara|InParanoid|OrthoFinder |
3 |
9 |
Yes |
No
|
| ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION; EMPF |
614388 |
DNM1L |
dynamin 1-like |
10059 |
603850 |
DNM1 |
YLL001W |
DyNaMin-related |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12 |
614050 |
ABCC9 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
10060 |
601439 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| CANTU SYNDROME |
239850 |
ABCC9 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
10060 |
601439 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, DILATED, 1O; CMD1O |
608569 |
ABCC9 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
10060 |
601439 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST |
300706 |
HUWE1 |
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase |
10075 |
300697 |
TOM1 |
YDR457W |
Temperature dependent Organization in Mitotic nucleus or Trigger Of Mitosis |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD |
613078 |
RAD50 |
RAD50 homolog, double strand break repair protein |
10111 |
604040 |
RAD50 |
YNL250W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDED |
300475 |
BCAP31 |
B-cell receptor-associated protein 31 |
10134 |
300398 |
YET3 |
YDL072C |
Yeast Endoplasmic reticulum Transmembrane protein |
DiOPT |
OMA|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| HYPERLYSINEMIA, TYPE I |
238700 |
AASS |
aminoadipate-semialdehyde synthase |
10157 |
605113 |
LYS9 |
YNR050C |
LYSine requiring |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| SACCHAROPINURIA |
268700 |
AASS |
aminoadipate-semialdehyde synthase |
10157 |
605113 |
LYS9 |
YNR050C |
LYSine requiring |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 |
603471 |
SLC25A13 |
solute carrier family 25 (aspartate/glutamate carrier), member 13 |
10165 |
603859 |
AGC1 |
YPR021C |
Aspartate-Glutamate Carrier |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
605814 |
SLC25A13 |
solute carrier family 25 (aspartate/glutamate carrier), member 13 |
10165 |
603859 |
AGC1 |
YPR021C |
Aspartate-Glutamate Carrier |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME |
238970 |
SLC25A15 |
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 |
10166 |
603861 |
ORT1 |
YOR130C |
ORnithine Transporter |
DiOPT |
OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D |
601110 |
ALG3 |
ALG3, alpha-1,3- mannosyltransferase |
10195 |
608750 |
ALG3 |
YBL082C |
Asparagine Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| BLEEDING DISORDER, PLATELET-TYPE, 18; BDPLT18 |
615888 |
RASGRP2 |
RAS guanyl releasing protein 2 (calcium and DAG-regulated) |
10235 |
605577 |
BUD5 |
YCR038C |
BUD site selection |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 |
154400 |
SF3B4 |
splicing factor 3b, subunit 4, 49kDa |
10262 |
605593 |
HSH49 |
YOR319W |
Human Sap Homolog |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PhylomeDB|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB |
608612 |
ZMPSTE24 |
zinc metallopeptidase STE24 |
10269 |
606480 |
STE24 |
YJR117W |
STErile |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RESTRICTIVE DERMOPATHY, LETHAL |
275210 |
ZMPSTE24 |
zinc metallopeptidase STE24 |
10269 |
606480 |
STE24 |
YJR117W |
STErile |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16 |
614373 |
SIGMAR1 |
sigma non-opioid intracellular receptor 1 |
10280 |
601978 |
ERG2 |
YMR202W |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2 |
605726 |
SIGMAR1 |
sigma non-opioid intracellular receptor 1 |
10280 |
601978 |
ERG2 |
YMR202W |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD |
614923 |
BCKDK |
branched chain ketoacid dehydrogenase kinase |
10295 |
614901 |
PKP1 |
YIL042C |
Protein Kinase of PDH |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD |
614923 |
BCKDK |
branched chain ketoacid dehydrogenase kinase |
10295 |
614901 |
PKP2 |
YGL059W |
Protein Kinase of PDH |
DiOPT |
PANTHER|OMA|OrthoFinder |
3 |
9 |
No |
Yes
|
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 |
259700 |
TCIRG1 |
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
10312 |
604592 |
STV1 |
YMR054W |
Similar To VPH1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 |
259700 |
TCIRG1 |
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
10312 |
604592 |
VPH1 |
YOR270C |
Vacuolar pH |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1 |
614039 |
TUBB3 |
tubulin, beta 3 class III |
10381 |
602661 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A |
600638 |
TUBB3 |
tubulin, beta 3 class III |
10381 |
602661 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4 |
128101 |
TUBB4A |
tubulin, beta 4A class IVa |
10382 |
602662 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 |
612438 |
TUBB4A |
tubulin, beta 4A class IVa |
10382 |
602662 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| BOWEN-CONRADI SYNDROME; BWCNS |
211180 |
EMG1 |
EMG1 N1-specific pseudouridine methyltransferase |
10436 |
611531 |
EMG1 |
YLR186W |
Essential for Mitotic Growth |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I |
613612 |
COG5 |
component of oligomeric golgi complex 5 |
10466 |
606821 |
COG5 |
YNL051W |
Conserved Oligomeric Golgi complex |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH |
300243 |
SLC9A6 |
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 |
10479 |
300231 |
NHX1 |
YDR456W |
Na+/H+ eXchanger |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2 |
224100 |
SEC23B |
Sec23 homolog B, COPII coat complex component |
10483 |
610512 |
SEC23 |
YPR181C |
SECretory |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD |
607812 |
SEC23A |
Sec23 homolog A, COPII coat complex component |
10484 |
610511 |
SEC23 |
YPR181C |
SECretory |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| SPINOCEREBELLAR ATAXIA 36; SCA36 |
614153 |
NOP56 |
NOP56 ribonucleoprotein |
10528 |
614154 |
NOP56 |
YLR197W |
NucleOlar Protein of 56.8 kDa |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 4; AGS4 |
610333 |
RNASEH2A |
ribonuclease H2, subunit A |
10535 |
606034 |
RNH201 |
YNL072W |
RNase H |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 |
608594 |
AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
10555 |
603100 |
SLC1 |
YDL052C |
SphingoLipid Compensation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A |
162400 |
SPTLC1 |
serine palmitoyltransferase, long chain base subunit 1 |
10558 |
605712 |
LCB1 |
YMR296C |
Long-Chain Base |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM |
608097 |
ARFGEF2 |
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) |
10564 |
605371 |
SEC7 |
YDR170C |
SECretory |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 |
236670 |
POMT1 |
protein-O-mannosyltransferase 1 |
10585 |
607423 |
PMT4 |
YJR143C |
Protein O-MannosylTransferase |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 |
613155 |
POMT1 |
protein-O-mannosyltransferase 1 |
10585 |
607423 |
PMT4 |
YJR143C |
Protein O-MannosylTransferase |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 |
609308 |
POMT1 |
protein-O-mannosyltransferase 1 |
10585 |
607423 |
PMT4 |
YJR143C |
Protein O-MannosylTransferase |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 13; RP13 |
600059 |
PRPF8 |
pre-mRNA processing factor 8 |
10594 |
607300 |
PRP8 |
YHR165C |
Pre-mRNA Processing |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14 |
614946 |
FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
10667 |
611592 |
MSF1 |
YPR047W |
Mitochondrial aminoacyl-tRNA Synthetase, Phenylalanine (F) |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8 |
616230 |
CERS1 |
ceramide synthase 1 |
10715 |
606919 |
LAC1 |
YKL008C |
Longevity-Assurance gene Cognate (LAG1 Cognate) |
DiOPT |
OrthoInspector|OMA|PANTHER |
3 |
9 |
Yes |
No
|
| NEMALINE MYOPATHY 7; NEM7 |
610687 |
CFL2 |
cofilin 2 (muscle) |
1073 |
601443 |
COF1 |
YLL050C |
COFilin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PREMATURE OVARIAN FAILURE 8; POF8 |
615723 |
STAG3 |
stromal antigen 3 |
10734 |
608489 |
IRR1 |
YIL026C |
IRRegular cell behavior |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
DAL5 |
YJR152W |
Degradation of Allantoin |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
FEN2 |
YCR028C |
FENpropimorph resistance |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
SEO1 |
YAL067C |
Suppressor of sulfoxyde EthiOnine resistance |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
SOA1 |
YIL166C |
SulfOnAte transport |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
THI73 |
YLR004C |
THIamine regulon |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
TNA1 |
YGR260W |
Transporter of Nicotinic Acid |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
VHT1 |
YGR065C |
Vitamin H Transporter |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 |
612671 |
SLC17A3 |
solute carrier family 17 (organic anion transporter), member 3 |
10786 |
611034 |
YCT1 |
YLL055W |
Yeast Cysteine Transporter |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 |
211400 |
CFTR |
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
1080 |
602421 |
NFT1 |
YKR103W |
New Full-length MRP-type Transporter |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| CYSTIC FIBROSIS; CF |
219700 |
CFTR |
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
1080 |
602421 |
NFT1 |
YKR103W |
New Full-length MRP-type Transporter |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PANCREATITIS, HEREDITARY; PCTT |
167800 |
CFTR |
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
1080 |
602421 |
NFT1 |
YKR103W |
New Full-length MRP-type Transporter |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD |
277180 |
CFTR |
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
1080 |
602421 |
NFT1 |
YKR103W |
New Full-length MRP-type Transporter |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AMYOTROPHY, HEREDITARY NEURALGIC; HNA |
162100 |
SEPT9 |
septin 9 |
10801 |
604061 |
CDC10 |
YCR002C |
Cell Division Cycle |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
No
|
| FLOATING-HARBOR SYNDROME; FLHS |
136140 |
SRCAP |
Snf2-related CREBBP activator protein |
10847 |
611421 |
SWR1 |
YDR334W |
SWi2/snf2-Related |
DiOPT |
OrthoInspector|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| BURN-MCKEOWN SYNDROME; BMKS |
608572 |
TXNL4A |
thioredoxin-like 4A |
10907 |
611595 |
DIB1 |
YPR082C |
S. pombe DIm1+ in Budding yeast |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| BOUCHER-NEUHAUSER SYNDROME; BNHS |
215470 |
PNPLA6 |
patatin-like phospholipase domain containing 6 |
10908 |
603197 |
NTE1 |
YML059C |
Neuropathy Target Esterase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LAURENCE-MOON SYNDROME; LNMS |
245800 |
PNPLA6 |
patatin-like phospholipase domain containing 6 |
10908 |
603197 |
NTE1 |
YML059C |
Neuropathy Target Esterase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| OLIVER-MCFARLANE SYNDROME; OMCS |
275400 |
PNPLA6 |
patatin-like phospholipase domain containing 6 |
10908 |
603197 |
NTE1 |
YML059C |
Neuropathy Target Esterase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39 |
612020 |
PNPLA6 |
patatin-like phospholipase domain containing 6 |
10908 |
603197 |
NTE1 |
YML059C |
Neuropathy Target Esterase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 |
614487 |
AFG3L2 |
AFG3-like AAA ATPase 2 |
10939 |
604581 |
AFG3 |
YER017C |
ATPase Family Gene |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 |
614487 |
AFG3L2 |
AFG3-like AAA ATPase 2 |
10939 |
604581 |
YTA12 |
YMR089C |
Yeast Tat-binding Analog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 28; SCA28 |
610246 |
AFG3L2 |
AFG3-like AAA ATPase 2 |
10939 |
604581 |
AFG3 |
YER017C |
ATPase Family Gene |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 28; SCA28 |
610246 |
AFG3L2 |
AFG3-like AAA ATPase 2 |
10939 |
604581 |
YTA12 |
YMR089C |
Yeast Tat-binding Analog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10 |
615803 |
CLP1 |
cleavage and polyadenylation factor I subunit 1 |
10978 |
608757 |
CLP1 |
YOR250C |
CLeavage/Polyadenylation factor Ia subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ICHTHYOSIS PREMATURITY SYNDROME; IPS |
608649 |
SLC27A4 |
solute carrier family 27 (fatty acid transporter), member 4 |
10999 |
604194 |
FAT1 |
YBR041W |
FATty acid transporter |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD |
614462 |
LIAS |
lipoic acid synthetase |
11019 |
607031 |
LIP5 |
YOR196C |
LIPoic acid |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 |
254210 |
CHAT |
choline O-acetyltransferase |
1103 |
118490 |
CAT2 |
YML042W |
Carnitine AcetylTransferase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC |
615369 |
CHD2 |
chromodomain helicase DNA binding protein 2 |
1106 |
602119 |
CHD1 |
YER164W |
Chromatin organization modifier, Helicase, and DNA-binding domains |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| 46,XY SEX REVERSAL 8; SRXY8 |
614279 |
AKR1C4 |
aldo-keto reductase family 1, member C4 |
1109 |
600451 |
GCY1 |
YOR120W |
Galactose-inducible Crystallin-like Yeast protein |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
No
|
| 46,XY SEX REVERSAL 8; SRXY8 |
614279 |
AKR1C4 |
aldo-keto reductase family 1, member C4 |
1109 |
600451 |
YPR1 |
YDR368W |
Yeast Putative Reductase |
DiOPT |
Ensembl Compara|OrthoInspector|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7 |
607694 |
POLR3A |
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa |
11128 |
614258 |
RPO31 |
YOR116C |
RNA POlymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CYSTINURIA |
220100 |
SLC7A9 |
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 |
11136 |
604144 |
MUP1 |
YGR055W |
Methionine UPtake |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| IMMUNODEFICIENCY 8; IMD8 |
615401 |
CORO1A |
coronin, actin binding protein, 1A |
11151 |
605000 |
CRN1 |
YLR429W |
CoRoNin |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 |
300894 |
WDR45 |
WD repeat domain 45 |
11152 |
300526 |
HSV2 |
YGR223C |
Homologous with SVP1 |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
No
|
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7 |
611960 |
CHI3L1 |
chitinase 3-like 1 (cartilage glycoprotein-39) |
1116 |
601525 |
CTS2 |
YDR371W |
ChiTinaSe |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| SCHIZOPHRENIA; SCZD |
181500 |
CHI3L1 |
chitinase 3-like 1 (cartilage glycoprotein-39) |
1116 |
601525 |
CTS2 |
YDR371W |
ChiTinaSe |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| CHITOTRIOSIDASE DEFICIENCY; CHITD |
614122 |
CHIT1 |
chitinase 1 (chitotriosidase) |
1118 |
600031 |
CTS2 |
YDR371W |
ChiTinaSe |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| TREHALASE DEFICIENCY |
612119 |
TREH |
trehalase (brush-border membrane glycoprotein) |
11181 |
275360 |
NTH1 |
YDR001C |
Neutral TreHalase |
DiOPT |
OrthoInspector|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| TREHALASE DEFICIENCY |
612119 |
TREH |
trehalase (brush-border membrane glycoprotein) |
11181 |
275360 |
NTH2 |
YBR001C |
Neutral TreHalase |
DiOPT |
OrthoInspector|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC |
602541 |
CHKB |
choline kinase beta |
1120 |
612395 |
CKI1 |
YLR133W |
Choline KInase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC |
602541 |
CHKB |
choline kinase beta |
1120 |
612395 |
EKI1 |
YDR147W |
Ethanolamine KInase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| BREAST CANCER |
114480 |
CHEK2 |
checkpoint kinase 2 |
11200 |
604373 |
DUN1 |
YDL101C |
DNA-damage UNinducible |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| LI-FRAUMENI SYNDROME 2; LFS2 |
609265 |
CHEK2 |
checkpoint kinase 2 |
11200 |
604373 |
DUN1 |
YDL101C |
DNA-damage UNinducible |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| OSTEOGENIC SARCOMA |
259500 |
CHEK2 |
checkpoint kinase 2 |
11200 |
604373 |
DUN1 |
YDL101C |
DNA-damage UNinducible |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PROSTATE CANCER |
176807 |
CHEK2 |
checkpoint kinase 2 |
11200 |
604373 |
DUN1 |
YDL101C |
DNA-damage UNinducible |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CHOROIDEREMIA; CHM |
303100 |
CHM |
choroideremia (Rab escort protein 1) |
1121 |
300390 |
MRS6 |
YOR370C |
Mitochondrial RNA Splicing |
DiOPT |
OrthoFinder|PANTHER |
2 |
9 |
Yes |
Yes
|
| CARDIAC CONDUCTION DEFECT SUDDEN CARDIAC DEATH, INCLUDED; SCD, INCLUDED |
115080 |
AKAP10 |
A kinase (PRKA) anchor protein 10 |
11216 |
604694 |
RAX1 |
YOR301W |
Revert to Axial |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 |
614582 |
MRPL3 |
mitochondrial ribosomal protein L3 |
11222 |
607118 |
MRPL9 |
YGR220C |
Mitochondrial Ribosomal Protein, Large subunit |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| POLYCYSTIC LIVER DISEASE; PCLD |
174050 |
SEC63 |
SEC63 homolog, protein translocation regulator |
11231 |
608648 |
SEC63 |
YOR254C |
SECretory |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15 |
614202 |
MAN1B1 |
mannosidase, alpha, class 1B, member 1 |
11253 |
604346 |
MNS1 |
YJR131W |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 |
616172 |
STX1B |
syntaxin 1B |
112755 |
601485 |
SSO1 |
YPL232W |
Supressor of Sec One |
DiOPT |
Ensembl Compara|OMA|InParanoid|PANTHER |
4 |
9 |
Yes |
No
|
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 |
616172 |
STX1B |
syntaxin 1B |
112755 |
601485 |
SSO2 |
YMR183C |
Supressor of Sec One |
DiOPT |
Ensembl Compara|OMA|InParanoid|PANTHER |
4 |
9 |
Yes |
No
|
| EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3 |
615552 |
SCN11A |
sodium channel, voltage gated, type XI alpha subunit |
11280 |
604385 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7 |
615548 |
SCN11A |
sodium channel, voltage gated, type XI alpha subunit |
11280 |
604385 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| ATAXIA-OCULOMOTOR APRAXIA 4; AOA4 |
616267 |
PNKP |
polynucleotide kinase 3'-phosphatase |
11284 |
605610 |
TPP1 |
YMR156C |
Three Prime Phosphatase |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ |
613402 |
PNKP |
polynucleotide kinase 3'-phosphatase |
11284 |
605610 |
TPP1 |
YMR156C |
Three Prime Phosphatase |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| CHEDIAK-HIGASHI SYNDROME; CHS |
214500 |
LYST |
lysosomal trafficking regulator |
1130 |
606897 |
BPH1 |
YCR032W |
Beige Protein Homolog |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
Yes |
No
|
| NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 |
615285 |
VPS45 |
vacuolar protein sorting 45 homolog (S. cerevisiae) |
11311 |
610035 |
VPS45 |
YGL095C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 |
615286 |
ADAT3 |
adenosine deaminase, tRNA-specific 3 |
113179 |
615302 |
TAD3 |
YLR316C |
tRNA-specific Adenosine Deaminase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| FOLATE MALABSORPTION, HEREDITARY |
229050 |
SLC46A1 |
solute carrier family 46 (folate transporter), member 1 |
113235 |
611672 |
|
YJL163C |
|
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C |
616081 |
EXOSC8 |
exosome component 8 |
11340 |
606019 |
RRP43 |
YCR035C |
Ribosomal RNA Processing |
DiOPT |
Ensembl Compara|PhylomeDB|PANTHER |
3 |
9 |
Yes |
Yes
|
| HYPOURICEMIA, RENAL, 1; RHUC1 |
220150 |
SLC22A12 |
solute carrier family 22 (organic anion/urate transporter), member 12 |
116085 |
607096 |
GIT1 |
YCR098C |
GlycerophosphoInosiTol |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| COCKAYNE SYNDROME A; CSA |
216400 |
ERCC8 |
excision repair cross-complementation group 8 |
1161 |
609412 |
RAD28 |
YDR030C |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| UV-SENSITIVE SYNDROME 2; UVSS2 |
614621 |
ERCC8 |
excision repair cross-complementation group 8 |
1161 |
609412 |
RAD28 |
YDR030C |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| SPERMATOGENIC FAILURE 3; SPGF3 |
606766 |
SLC26A8 |
solute carrier family 26 (anion exchanger), member 8 |
116369 |
608480 |
|
YPR003C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
No
|
| MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK |
609313 |
AP1S1 |
adaptor-related protein complex 1 sigma 1 subunit |
1174 |
603531 |
APS1 |
YLR170C |
clathrin Associated Protein complex Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3 |
600740 |
AP2S1 |
adaptor-related protein complex 2 sigma 1 subunit |
1175 |
602242 |
APS2 |
YJR058C |
clathrin Associated Protein complex Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DENT DISEASE 1 |
300009 |
CLCN5 |
chloride channel, voltage-sensitive 5 |
1184 |
300008 |
GEF1 |
YJR040W |
Glycerol Ethanol, Ferric requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE |
300554 |
CLCN5 |
chloride channel, voltage-sensitive 5 |
1184 |
300008 |
GEF1 |
YJR040W |
Glycerol Ethanol, Ferric requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN |
310468 |
CLCN5 |
chloride channel, voltage-sensitive 5 |
1184 |
300008 |
GEF1 |
YJR040W |
Glycerol Ethanol, Ferric requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS |
308990 |
CLCN5 |
chloride channel, voltage-sensitive 5 |
1184 |
300008 |
GEF1 |
YJR040W |
Glycerol Ethanol, Ferric requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 |
204200 |
CLN3 |
ceroid-lipofuscinosis, neuronal 3 |
1201 |
607042 |
YHC3 |
YJL059W |
Yeast Homolog of human Cln3 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 |
613849 |
SP7 |
Sp7 transcription factor |
121340 |
606633 |
CMR3 |
YPR013C |
Changed Mutation Rate |
DiOPT |
Hieranoid|InParanoid |
2 |
9 |
Yes |
Yes
|
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4 |
616370 |
ISCA2 |
iron-sulfur cluster assembly 2 |
122961 |
615317 |
ISA2 |
YPR067W |
Iron Sulfur Assembly |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 |
614947 |
MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
123263 |
611766 |
FMT1 |
YBL013W |
Formyl-Methionyl-tRNA Transformylase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DUBIN-JOHNSON SYNDROME; DJS |
237500 |
ABCC2 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 2 |
1244 |
601107 |
YCF1 |
YDR135C |
Yeast Cadmium Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPERMATOGENIC FAILURE 10; SPGF10 |
614822 |
SEPT12 |
septin 12 |
124404 |
611562 |
CDC10 |
YCR002C |
Cell Division Cycle |
DiOPT |
OMA|OrthoFinder|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 |
614924 |
EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
124454 |
612799 |
MSE1 |
YOL033W |
Mitochondrial aminoacyl-tRNA Synthetase, Glutamate (E) |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ALCOHOL DEPENDENCE |
103780 |
ADH1B |
alcohol dehydrogenase 1B (class I), beta polypeptide |
125 |
103720 |
SFA1 |
YDL168W |
Sensitive to FormAldehyde |
DiOPT |
OrthoInspector|OMA|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| ALCOHOL DEPENDENCE |
103780 |
ADH1C |
alcohol dehydrogenase 1C (class I), gamma polypeptide |
126 |
103730 |
SFA1 |
YDL168W |
Sensitive to FormAldehyde |
DiOPT |
OrthoInspector|OMA|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| PARKINSON DISEASE, LATE-ONSET; PD |
168600 |
ADH1C |
alcohol dehydrogenase 1C (class I), gamma polypeptide |
126 |
103730 |
SFA1 |
YDL168W |
Sensitive to FormAldehyde |
DiOPT |
OrthoInspector|OMA|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| WARBURG MICRO SYNDROME 4; WARBM4 |
615663 |
TBC1D20 |
TBC1 domain family, member 20 |
128637 |
611663 |
GYP8 |
YFL027C |
Gtpase-activating protein for Ypt Proteins |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| CATARACT 31, MULTIPLE TYPES; CTRCT31 |
605387 |
CHMP4B |
charged multivesicular body protein 4B |
128866 |
610897 |
SNF7 |
YLR025W |
Sucrose NonFermenting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| PERLMAN SYNDROME; PRLMNS |
267000 |
DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
129563 |
614184 |
SSD1 |
YDR293C |
Suppressor of SIT4 Deletion |
DiOPT |
OMA|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
Yes |
Yes
|
| PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15 |
616106 |
AP1S3 |
adaptor-related protein complex 1 sigma 3 subunit |
130340 |
615781 |
APS1 |
YLR170C |
clathrin Associated Protein complex Small subunit |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
No
|
| 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 |
610198 |
DNAJC19 |
DnaJ (Hsp40) homolog, subfamily C, member 19 |
131118 |
608977 |
MDJ2 |
YNL328C |
Mitochondrial DnaJ homolog |
DiOPT |
Hieranoid|OrthoFinder|Ensembl Compara|PANTHER |
4 |
9 |
No |
Yes
|
| 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 |
610198 |
DNAJC19 |
DnaJ (Hsp40) homolog, subfamily C, member 19 |
131118 |
608977 |
PAM18 |
YLR008C |
Presequence translocase-Associated Motor |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK |
616414 |
COPA |
coatomer protein complex, subunit alpha |
1314 |
601924 |
COP1 |
YDL145C |
COat Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY |
614300 |
ADK |
adenosine kinase |
132 |
102750 |
ADO1 |
YJR105W |
ADenOsine kinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID |
616039 |
COX6A1 |
cytochrome c oxidase subunit VIa polypeptide 1 |
1337 |
602072 |
COX13 |
YGL191W |
Cytochrome c OXidase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| MITOCHONDRIAL COMPLEX IV DEFICIENCY |
220110 |
COX6B1 |
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) |
1340 |
124089 |
COX12 |
YLR038C |
Cytochrome c OXidase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| GLAUCOMA 1, OPEN ANGLE, G; GLC1G |
609887 |
WDR36 |
WD repeat domain 36 |
134430 |
609669 |
UTP21 |
YLR409C |
U Three Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEIGH SYNDROME; LS |
256000 |
COX10 |
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor |
1352 |
602125 |
COX10 |
YPL172C |
Cytochrome c OXidase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX IV DEFICIENCY |
220110 |
COX10 |
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor |
1352 |
602125 |
COX10 |
YPL172C |
Cytochrome c OXidase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2; CEMCOX2 |
615119 |
COX15 |
cytochrome c oxidase assembly homolog 15 (yeast) |
1355 |
603646 |
COX15 |
YER141W |
Cytochrome c OXidase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEIGH SYNDROME; LS |
256000 |
COX15 |
cytochrome c oxidase assembly homolog 15 (yeast) |
1355 |
603646 |
COX15 |
YER141W |
Cytochrome c OXidase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COPROPORPHYRIA, HEREDITARY; HCP |
121300 |
CPOX |
coproporphyrinogen oxidase |
1371 |
612732 |
HEM13 |
YDR044W |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO |
237300 |
CPS1 |
carbamoyl-phosphate synthase 1, mitochondrial |
1373 |
608307 |
CPA2 |
YJR109C |
Carbamyl Phosphate synthetase A |
DiOPT |
Ensembl Compara|OMA|PANTHER |
3 |
9 |
Yes |
Yes
|
| PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO; PHN |
615371 |
CPS1 |
carbamoyl-phosphate synthase 1, mitochondrial |
1373 |
608307 |
CPA2 |
YJR109C |
Carbamyl Phosphate synthetase A |
DiOPT |
Ensembl Compara|OMA|PANTHER |
3 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 |
614898 |
VPS37A |
vacuolar protein sorting 37 homolog A (S. cerevisiae) |
137492 |
609927 |
SRN2 |
YLR119W |
Suppressor of Rna mutations, Number 2 |
DiOPT |
PANTHER|OrthoFinder |
2 |
9 |
Yes |
Yes
|
| CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE |
600649 |
CPT2 |
carnitine palmitoyltransferase 2 |
1376 |
600650 |
YAT1 |
YAR035W |
|
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET |
255110 |
CPT2 |
carnitine palmitoyltransferase 2 |
1376 |
600650 |
YAT1 |
YAR035W |
|
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL |
608836 |
CPT2 |
carnitine palmitoyltransferase 2 |
1376 |
600650 |
YAT1 |
YAR035W |
|
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4 |
614212 |
CPT2 |
carnitine palmitoyltransferase 2 |
1376 |
600650 |
YAT1 |
YAR035W |
|
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40 |
616357 |
CRYM |
crystallin, mu |
1428 |
123740 |
|
YGL159W |
|
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| LEBER CONGENITAL AMAUROSIS 13; LCA13 RETINITIS PIGMENTOSA 53, INCLUDED; RP53, INCLUDED |
612712 |
RDH12 |
retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
145226 |
608830 |
ENV9 |
YOR246C |
late ENdosome and Vacuole interface function |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|InParanoid |
5 |
9 |
Yes |
No
|
| ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2 |
615224 |
CSNK1D |
casein kinase 1, delta |
1453 |
600864 |
HRR25 |
YPL204W |
HO and Radiation Repair |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| CATARACT 43; CTRCT43 |
616279 |
UNC45B |
unc-45 myosin chaperone B |
146862 |
611220 |
SHE4 |
YOR035C |
Swi5p-dependent HO Expression |
DiOPT |
Hieranoid|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
Yes |
Yes
|
| CYSTATHIONINURIA |
219500 |
CTH |
cystathionine gamma-lyase |
1491 |
607657 |
CYS3 |
YAL012W |
CYStathionine gamma-lyase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CYSTINOSIS, ADULT NONNEPHROPATHIC |
219750 |
CTNS |
cystinosin, lysosomal cystine transporter |
1497 |
606272 |
ERS1 |
YCR075C |
ERd Suppressor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
219900 |
CTNS |
cystinosin, lysosomal cystine transporter |
1497 |
606272 |
ERS1 |
YCR075C |
ERd Suppressor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CYSTINOSIS, NEPHROPATHIC; CTNS |
219800 |
CTNS |
cystinosin, lysosomal cystine transporter |
1497 |
606272 |
ERS1 |
YCR075C |
ERd Suppressor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO; DSPS |
614163 |
AANAT |
aralkylamine N-acetyltransferase |
15 |
600950 |
PAA1 |
YDR071C |
PolyAmine Acetyltransferase |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30 |
616341 |
SIK1 |
salt-inducible kinase 1 |
150094 |
605705 |
KIN1 |
YDR122W |
KINase |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30 |
616341 |
SIK1 |
salt-inducible kinase 1 |
150094 |
605705 |
KIN2 |
YLR096W |
KINase |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30 |
616341 |
SIK1 |
salt-inducible kinase 1 |
150094 |
605705 |
PTK1 |
YKL198C |
Putative serine/Threonine protein Kinase |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| IMMUNODEFICIENCY 24; IMD24 |
615897 |
CTPS1 |
CTP synthase 1 |
1503 |
123860 |
URA7 |
YBL039C |
URAcil requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| IMMUNODEFICIENCY 24; IMD24 |
615897 |
CTPS1 |
CTP synthase 1 |
1503 |
123860 |
URA8 |
YJR103W |
URAcil requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 |
610127 |
CTSD |
cathepsin D |
1509 |
116840 |
PEP4 |
YPL154C |
carboxyPEPtidase Y-deficient |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| METHEMOGLOBINEMIA TYPE IV |
250790 |
CYB5A |
cytochrome b5 type A (microsomal) |
1528 |
613218 |
CYB5 |
YNL111C |
CYtochrome B |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV |
615135 |
PPM1K |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
152926 |
611065 |
PTC6 |
YCR079W |
Phosphatase Two C |
DiOPT |
Ensembl Compara|OrthoFinder |
2 |
9 |
Yes |
Yes
|
| HYPERGLYCINURIA |
138500 |
SLC36A2 |
solute carrier family 36 (proton/amino acid symporter), member 2 |
153201 |
608331 |
AVT3 |
YKL146W |
Amino acid Vacuolar Transport |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| HYPERGLYCINURIA |
138500 |
SLC36A2 |
solute carrier family 36 (proton/amino acid symporter), member 2 |
153201 |
608331 |
AVT4 |
YNL101W |
Amino acid Vacuolar Transport |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| IMINOGLYCINURIA |
242600 |
SLC36A2 |
solute carrier family 36 (proton/amino acid symporter), member 2 |
153201 |
608331 |
AVT3 |
YKL146W |
Amino acid Vacuolar Transport |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| IMINOGLYCINURIA |
242600 |
SLC36A2 |
solute carrier family 36 (proton/amino acid symporter), member 2 |
153201 |
608331 |
AVT4 |
YNL101W |
Amino acid Vacuolar Transport |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6 |
615453 |
CYC1 |
cytochrome c-1 |
1537 |
123980 |
CYT1 |
YOR065W |
CYTochrome c1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ROBERTS SYNDROME; RBS |
268300 |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
157570 |
609353 |
ECO1 |
YFR027W |
Establishment of COhesion |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| SC PHOCOMELIA SYNDROME |
269000 |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
157570 |
609353 |
ECO1 |
YFR027W |
Establishment of COhesion |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| ADENYLOSUCCINASE DEFICIENCY |
103050 |
ADSL |
adenylosuccinate lyase |
158 |
608222 |
ADE13 |
YLR359W |
ADEnine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 91; MRX91 |
300577 |
ZDHHC15 |
zinc finger, DHHC-type containing 15 |
158866 |
300576 |
PFA3 |
YNL326C |
Protein Fatty Acyltransferase |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N |
613287 |
AARS |
alanyl-tRNA synthetase |
16 |
601065 |
ALA1 |
YOR335C |
ALAnyl-tRNA synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29 |
616339 |
AARS |
alanyl-tRNA synthetase |
16 |
601065 |
ALA1 |
YOR335C |
ALAnyl-tRNA synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL |
615281 |
DARS |
aspartyl-tRNA synthetase |
1615 |
603084 |
DPS1 |
YLL018C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD |
237310 |
NAGS |
N-acetylglutamate synthase |
162417 |
608300 |
ARG2 |
YJL071W |
ARGinine requiring |
DiOPT |
Ensembl Compara|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD |
237310 |
NAGS |
N-acetylglutamate synthase |
162417 |
608300 |
ARG56 |
YER069W |
ARGinine requiring |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|InParanoid |
5 |
9 |
Yes |
Yes
|
| PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES |
614594 |
TRPV3 |
transient receptor potential cation channel, subfamily V, member 3 |
162514 |
607066 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2 |
616400 |
TRPV3 |
transient receptor potential cation channel, subfamily V, member 3 |
162514 |
607066 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PREMATURE OVARIAN FAILURE 9; POF9 |
615724 |
HFM1 |
HFM1, ATP-dependent DNA helicase homolog |
164045 |
615684 |
HFM1 |
YGL251C |
Helicase Family Member |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| 46,XY SEX REVERSAL 8; SRXY8 |
614279 |
AKR1C2 |
aldo-keto reductase family 1, member C2 |
1646 |
600450 |
GCY1 |
YOR120W |
Galactose-inducible Crystallin-like Yeast protein |
DiOPT |
Ensembl Compara|OrthoInspector|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| 46,XY SEX REVERSAL 8; SRXY8 |
614279 |
AKR1C2 |
aldo-keto reductase family 1, member C2 |
1646 |
600450 |
YPR1 |
YDR368W |
Yeast Putative Reductase |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R |
614507 |
DDOST |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) |
1650 |
602202 |
WBP1 |
YEL002C |
Wheat germ agglutinin-Binding Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 102; MRX102 |
300958 |
DDX3X |
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked |
1654 |
300160 |
DBP1 |
YPL119C |
Dead Box Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
No |
Yes
|
| MENTAL RETARDATION, X-LINKED 102; MRX102 |
300958 |
DDX3X |
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked |
1654 |
300160 |
DED1 |
YOR204W |
Defines Essential Domain |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| WARSAW BREAKAGE SYNDROME; WABS |
613398 |
DDX11 |
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 |
1663 |
601150 |
CHL1 |
YPL008W |
CHromosome Loss |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS |
616577 |
SPATA5 |
spermatogenesis associated 5 |
166378 |
613940 |
AFG2 |
YLR397C |
ATPase Family Gene |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MOHR-TRANEBJAERG SYNDROME; MTS |
304700 |
TIMM8A |
translocase of inner mitochondrial membrane 8 homolog A (yeast) |
1678 |
300356 |
TIM8 |
YJR135W-A |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA |
311150 |
TIMM8A |
translocase of inner mitochondrial membrane 8 homolog A (yeast) |
1678 |
300356 |
TIM8 |
YJR135W-A |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY |
613839 |
DHFR |
dihydrofolate reductase |
1719 |
126060 |
DFR1 |
YOR236W |
DihydroFolate Reductase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS |
263750 |
DHODH |
dihydroorotate dehydrogenase (quinone) |
1723 |
126064 |
URA1 |
YKL216W |
URAcil requiring |
DiOPT |
Hieranoid|OMA|InParanoid |
3 |
9 |
Yes |
Yes
|
| METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE |
250800 |
CYB5R3 |
cytochrome b5 reductase 3 |
1727 |
613213 |
AIM33 |
YML087C |
Altered Inheritance rate of Mitochondria |
DiOPT |
OMA|OrthoFinder|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
No |
Yes
|
| METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE |
250800 |
CYB5R3 |
cytochrome b5 reductase 3 |
1727 |
613213 |
CBR1 |
YIL043C |
Cytochrome b Reductase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE |
250800 |
CYB5R3 |
cytochrome b5 reductase 3 |
1727 |
613213 |
PGA3 |
YML125C |
Processing of Gas1p and ALP |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1 |
124900 |
DIAPH1 |
diaphanous-related formin 1 |
1729 |
602121 |
BNI1 |
YNL271C |
Bud Neck Involved |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
Yes |
No
|
| DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1 |
124900 |
DIAPH1 |
diaphanous-related formin 1 |
1729 |
602121 |
BNR1 |
YIL159W |
BNi1 Related |
DiOPT |
Ensembl Compara|InParanoid|SonicParanoid |
3 |
9 |
Yes |
No
|
| PREMATURE OVARIAN FAILURE 2A; POF2A |
300511 |
DIAPH2 |
diaphanous-related formin 2 |
1730 |
300108 |
BNI1 |
YNL271C |
Bud Neck Involved |
DiOPT |
Ensembl Compara|PhylomeDB|InParanoid|SonicParanoid |
4 |
9 |
Yes |
Yes
|
| PREMATURE OVARIAN FAILURE 2A; POF2A |
300511 |
DIAPH2 |
diaphanous-related formin 2 |
1730 |
300108 |
BNR1 |
YIL159W |
BNi1 Related |
DiOPT |
Ensembl Compara|PhylomeDB|InParanoid|SonicParanoid |
4 |
9 |
Yes |
Yes
|
| DYSKERATOSIS CONGENITA, X-LINKED; DKCX |
305000 |
DKC1 |
dyskeratosis congenita 1, dyskerin |
1736 |
300126 |
CBF5 |
YLR175W |
Centromere Binding Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD |
245348 |
DLAT |
dihydrolipoamide S-acetyltransferase |
1737 |
608770 |
LAT1 |
YNL071W |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD |
246900 |
DLD |
dihydrolipoamide dehydrogenase |
1738 |
238331 |
LPD1 |
YFL018C |
LiPoamide Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31 |
616346 |
DNM1 |
dynamin 1 |
1759 |
602377 |
VPS1 |
YKR001C |
Vacuolar Protein Sorting |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6; PEOA6 |
615156 |
DNA2 |
DNA replication helicase/nuclease 2 |
1763 |
601810 |
DNA2 |
YHR164C |
DNA synthesis defective |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SECKEL SYNDROME 8; SCKL8 |
615807 |
DNA2 |
DNA replication helicase/nuclease 2 |
1763 |
601810 |
DNA2 |
YHR164C |
DNA synthesis defective |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O |
614228 |
DYNC1H1 |
dynein, cytoplasmic 1, heavy chain 1 |
1778 |
600112 |
DYN1 |
YKR054C |
DYNein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 |
614563 |
DYNC1H1 |
dynein, cytoplasmic 1, heavy chain 1 |
1778 |
600112 |
DYN1 |
YKR054C |
DYNein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1 |
158600 |
DYNC1H1 |
dynein, cytoplasmic 1, heavy chain 1 |
1778 |
600112 |
DYN1 |
YKR054C |
DYNein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE III; GSD3 |
232400 |
AGL |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
178 |
610860 |
GDB1 |
YPR184W |
Glycogen DeBranching |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB |
606482 |
DNM2 |
dynamin 2 |
1785 |
602378 |
VPS1 |
YKR001C |
Vacuolar Protein Sorting |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| LETHAL CONGENITAL CONTRACTURE SYNDROME 5; LCCS5 |
615368 |
DNM2 |
dynamin 2 |
1785 |
602378 |
VPS1 |
YKR001C |
Vacuolar Protein Sorting |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MYOPATHY, CENTRONUCLEAR, 1; CNM1 |
160150 |
DNM2 |
dynamin 2 |
1785 |
602378 |
VPS1 |
YKR001C |
Vacuolar Protein Sorting |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| IMMUNODEFICIENCY 40; IMD40 |
616433 |
DOCK2 |
dedicator of cytokinesis 2 |
1794 |
603122 |
DCK1 |
YLR422W |
DoCK1 homolog |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J |
608093 |
DPAGT1 |
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) |
1798 |
191350 |
ALG7 |
YBR243C |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 |
614750 |
DPAGT1 |
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) |
1798 |
191350 |
ALG7 |
YBR243C |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GABA-TRANSAMINASE DEFICIENCY |
613163 |
ABAT |
4-aminobutyrate aminotransferase |
18 |
137150 |
UGA1 |
YGR019W |
Utilization of GAba |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33 |
616311 |
DPP6 |
dipeptidyl-peptidase 6 |
1804 |
126141 |
STE13 |
YOR219C |
STErile |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2 |
612956 |
DPP6 |
dipeptidyl-peptidase 6 |
1804 |
126141 |
STE13 |
YOR219C |
STErile |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD |
222748 |
DPYS |
dihydropyrimidinase |
1807 |
613326 |
DAL1 |
YIR027C |
Degradation of Allantoin |
DiOPT |
SonicParanoid|InParanoid |
2 |
9 |
Yes |
Yes
|
| DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1 |
214700 |
SLC26A3 |
solute carrier family 26 (anion exchanger), member 3 |
1811 |
126650 |
|
YPR003C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
No
|
| ACHONDROGENESIS, TYPE IB; ACG1B |
600972 |
SLC26A2 |
solute carrier family 26 (anion exchanger), member 2 |
1836 |
606718 |
|
YPR003C |
|
DiOPT |
Hieranoid|OMA|SonicParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| ATELOSTEOGENESIS, TYPE II; AO2 |
256050 |
SLC26A2 |
solute carrier family 26 (anion exchanger), member 2 |
1836 |
606718 |
|
YPR003C |
|
DiOPT |
Hieranoid|OMA|SonicParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| DIASTROPHIC DYSPLASIA; DTD |
222600 |
SLC26A2 |
solute carrier family 26 (anion exchanger), member 2 |
1836 |
606718 |
|
YPR003C |
|
DiOPT |
Hieranoid|OMA|SonicParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 |
226900 |
SLC26A2 |
solute carrier family 26 (anion exchanger), member 2 |
1836 |
606718 |
|
YPR003C |
|
DiOPT |
Hieranoid|OMA|SonicParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| HYPEROXALURIA, PRIMARY, TYPE I; HP1 |
259900 |
AGXT |
alanine-glyoxylate aminotransferase |
189 |
604285 |
AGX1 |
YFL030W |
Alanine:Glyoxylate aminotrans(X)ferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY |
613752 |
AHCY |
adenosylhomocysteinase |
191 |
180960 |
SAH1 |
YER043C |
S-Adenosyl-l-Homocysteine hydrolase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33 |
616409 |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
1917 |
602959 |
TEF1 |
YPR080W |
Translation Elongation Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33 |
616409 |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
1917 |
602959 |
TEF2 |
YBR118W |
Translation Elongation Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 |
616393 |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
1917 |
602959 |
TEF1 |
YPR080W |
Translation Elongation Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 |
616393 |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
1917 |
602959 |
TEF2 |
YBR118W |
Translation Elongation Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 26; SCA26 |
609306 |
EEF2 |
eukaryotic translation elongation factor 2 |
1938 |
130610 |
EFT1 |
YOR133W |
Elongation Factor Two |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 26; SCA26 |
609306 |
EEF2 |
eukaryotic translation elongation factor 2 |
1938 |
130610 |
EFT2 |
YDR385W |
Elongation Factor Two |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
603896 |
EIF2B1 |
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa |
1967 |
606686 |
GCN3 |
YKR026C |
General Control Nonderepressible |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| JOHANSON-BLIZZARD SYNDROME; JBS |
243800 |
UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
197131 |
605981 |
UBR1 |
YGR184C |
|
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA |
614265 |
ACSF3 |
acyl-CoA synthetase family member 3 |
197322 |
614245 |
PCS60 |
YBR222C |
Peroxisomal CoA-dependent Synthetase |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
Yes
|
| AUTISM, SUSCEPTIBILITY TO, 19; AUTS19 |
615091 |
EIF4E |
eukaryotic translation initiation factor 4E |
1977 |
133440 |
CDC33 |
YOL139C |
Cell Division Cycle |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18 |
614251 |
EIF4G1 |
eukaryotic translation initiation factor 4 gamma, 1 |
1981 |
600495 |
TIF4631 |
YGR162W |
Translation Initiation Factor |
DiOPT |
Hieranoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
No
|
| PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18 |
614251 |
EIF4G1 |
eukaryotic translation initiation factor 4 gamma, 1 |
1981 |
600495 |
TIF4632 |
YGL049C |
Translation Initiation Factor |
DiOPT |
Hieranoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
No
|
| MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15 |
616227 |
ALG14 |
ALG14, UDP-N-acetylglucosaminyltransferase subunit |
199857 |
612866 |
ALG14 |
YBR070C |
Asparagine Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 |
615330 |
IBA57 |
IBA57 homolog, iron-sulfur cluster assembly |
200205 |
615316 |
IBA57 |
YJR122W |
Iron-sulfur cluster assembly factor for Biotin synthase and Aconitase-like mitochondrial proteins |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74 |
616451 |
IBA57 |
IBA57 homolog, iron-sulfur cluster assembly |
200205 |
615316 |
IBA57 |
YJR122W |
Iron-sulfur cluster assembly factor for Biotin synthase and Aconitase-like mitochondrial proteins |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY, FLECK |
121850 |
PIKFYVE |
phosphoinositide kinase, FYVE finger containing |
200576 |
609414 |
FAB1 |
YFR019W |
Forms Aploid and Binucleate cells |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| BIRT-HOGG-DUBE SYNDROME; BHD |
135150 |
FLCN |
folliculin |
201163 |
607273 |
LST7 |
YGR057C |
Lethal with Sec Thirteen |
DiOPT |
Ensembl Compara|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
FLCN |
folliculin |
201163 |
607273 |
LST7 |
YGR057C |
Lethal with Sec Thirteen |
DiOPT |
Ensembl Compara|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| PNEUMOTHORAX, PRIMARY SPONTANEOUS |
173600 |
FLCN |
folliculin |
201163 |
607273 |
LST7 |
YGR057C |
Lethal with Sec Thirteen |
DiOPT |
Ensembl Compara|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| RENAL CELL CARCINOMA, NONPAPILLARY; RCC |
144700 |
FLCN |
folliculin |
201163 |
607273 |
LST7 |
YGR057C |
Lethal with Sec Thirteen |
DiOPT |
Ensembl Compara|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X |
615597 |
STT3B |
STT3B, subunit of the oligosaccharyltransferase complex (catalytic) |
201595 |
608605 |
STT3 |
YGL022W |
STaurosporine and Temperature sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE XIII; GSD13 |
612932 |
ENO3 |
enolase 3 (beta, muscle) |
2027 |
131370 |
ENO1 |
YGR254W |
ENOlase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE XIII; GSD13 |
612932 |
ENO3 |
enolase 3 (beta, muscle) |
2027 |
131370 |
ENO2 |
YHR174W |
ENOlase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE XIII; GSD13 |
612932 |
ENO3 |
enolase 3 (beta, muscle) |
2027 |
131370 |
ERR1 |
YOR393W |
Enolase-Related Repeat |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
No |
Yes
|
| GLYCOGEN STORAGE DISEASE XIII; GSD13 |
612932 |
ENO3 |
enolase 3 (beta, muscle) |
2027 |
131370 |
ERR2 |
YPL281C |
Enolase-Related Repeat |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
No |
Yes
|
| GLYCOGEN STORAGE DISEASE XIII; GSD13 |
612932 |
ENO3 |
enolase 3 (beta, muscle) |
2027 |
131370 |
ERR3 |
YMR323W |
Enolase-Related Repeat |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
No |
Yes
|
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6 |
615771 |
TUBB |
tubulin, beta class I |
203068 |
191130 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| RETICULAR DYSGENESIS |
267500 |
AK2 |
adenylate kinase 2 |
204 |
103020 |
ADK1 |
YDR226W |
ADenylate Kinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9 |
615023 |
CERS3 |
ceramide synthase 3 |
204219 |
615276 |
LAC1 |
YKL008C |
Longevity-Assurance gene Cognate (LAG1 Cognate) |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9 |
615023 |
CERS3 |
ceramide synthase 3 |
204219 |
615276 |
LAG1 |
YHL003C |
Longevity Assurance Gene |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 |
610758 |
ERCC1 |
excision repair cross-complementation group 1 |
2067 |
126380 |
RAD10 |
YML095C |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2 |
610756 |
ERCC2 |
excision repair cross-complementation group 2 |
2068 |
126340 |
RAD3 |
YER171W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 |
601675 |
ERCC2 |
excision repair cross-complementation group 2 |
2068 |
126340 |
RAD3 |
YER171W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
278730 |
ERCC2 |
excision repair cross-complementation group 2 |
2068 |
126340 |
RAD3 |
YER171W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| BREAST CANCER |
114480 |
AKT1 |
v-akt murine thymoma viral oncogene homolog 1 |
207 |
164730 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
AKT1 |
v-akt murine thymoma viral oncogene homolog 1 |
207 |
164730 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| COWDEN SYNDROME 6; CWS6 |
615109 |
AKT1 |
v-akt murine thymoma viral oncogene homolog 1 |
207 |
164730 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| OVARIAN CANCER OVARIAN CANCER, EPITHELIAL, INCLUDED |
167000 |
AKT1 |
v-akt murine thymoma viral oncogene homolog 1 |
207 |
164730 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| PROTEUS SYNDROME |
176920 |
AKT1 |
v-akt murine thymoma viral oncogene homolog 1 |
207 |
164730 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| SCHIZOPHRENIA; SCZD |
181500 |
AKT1 |
v-akt murine thymoma viral oncogene homolog 1 |
207 |
164730 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2 |
616390 |
ERCC3 |
excision repair cross-complementation group 3 |
2071 |
133510 |
SSL2 |
YIL143C |
Suppressor of Stem-Loop mutation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB |
610651 |
ERCC3 |
excision repair cross-complementation group 3 |
2071 |
133510 |
SSL2 |
YIL143C |
Suppressor of Stem-Loop mutation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ |
615272 |
ERCC4 |
excision repair cross-complementation group 4 |
2072 |
133520 |
RAD1 |
YPL022W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF |
278760 |
ERCC4 |
excision repair cross-complementation group 4 |
2072 |
133520 |
RAD1 |
YPL022W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| XFE PROGEROID SYNDROME; XFEPS |
610965 |
ERCC4 |
excision repair cross-complementation group 4 |
2072 |
133520 |
RAD1 |
YPL022W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3 |
616570 |
ERCC5 |
excision repair cross-complementation group 5 |
2073 |
133530 |
RAD2 |
YGR258C |
RADiation sensitivity |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
278780 |
ERCC5 |
excision repair cross-complementation group 5 |
2073 |
133530 |
RAD2 |
YGR258C |
RADiation sensitivity |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 |
214150 |
ERCC6 |
excision repair cross-complementation group 6 |
2074 |
609413 |
RAD26 |
YJR035W |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COCKAYNE SYNDROME B; CSB |
133540 |
ERCC6 |
excision repair cross-complementation group 6 |
2074 |
609413 |
RAD26 |
YJR035W |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DE SANCTIS-CACCHIONE SYNDROME |
278800 |
ERCC6 |
excision repair cross-complementation group 6 |
2074 |
609413 |
RAD26 |
YJR035W |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED |
211980 |
ERCC6 |
excision repair cross-complementation group 6 |
2074 |
609413 |
RAD26 |
YJR035W |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5 |
613761 |
ERCC6 |
excision repair cross-complementation group 6 |
2074 |
609413 |
RAD26 |
YJR035W |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| UV-SENSITIVE SYNDROME 1; UVSS1 |
600630 |
ERCC6 |
excision repair cross-complementation group 6 |
2074 |
609413 |
RAD26 |
YJR035W |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
AKT2 |
v-akt murine thymoma viral oncogene homolog 2 |
208 |
164731 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH |
240900 |
AKT2 |
v-akt murine thymoma viral oncogene homolog 2 |
208 |
164731 |
SCH9 |
YHR205W |
|
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| PORPHYRIA, ACUTE HEPATIC |
612740 |
ALAD |
aminolevulinate dehydratase |
210 |
125270 |
HEM2 |
YGL040C |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD |
231680 |
ETFA |
electron-transfer-flavoprotein, alpha polypeptide |
2108 |
608053 |
AIM45 |
YPR004C |
Altered Inheritance rate of Mitochondria |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD |
231680 |
ETFB |
electron-transfer-flavoprotein, beta polypeptide |
2109 |
130410 |
CIR1 |
YGR207C |
Changed Intracellular Redox state |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD |
231680 |
ETFDH |
electron-transferring-flavoprotein dehydrogenase |
2110 |
231675 |
CIR2 |
YOR356W |
Changed Intracellular Redox state |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA |
300751 |
ALAS2 |
5'-aminolevulinate synthase 2 |
212 |
301300 |
HEM1 |
YDR232W |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP |
300752 |
ALAS2 |
5'-aminolevulinate synthase 2 |
212 |
301300 |
HEM1 |
YDR232W |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| WEAVER SYNDROME; WVS |
277590 |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
2146 |
601573 |
SET2 |
YJL168C |
SET domain-containing |
DiOPT |
SonicParanoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| ADRENOLEUKODYSTROPHY; ALD |
300100 |
ABCD1 |
ATP-binding cassette, sub-family D (ALD), member 1 |
215 |
300371 |
PXA1 |
YPL147W |
PeroXisomal ABC-transporter |
DiOPT |
OrthoInspector|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| ADRENOLEUKODYSTROPHY; ALD |
300100 |
ABCD1 |
ATP-binding cassette, sub-family D (ALD), member 1 |
215 |
300371 |
PXA2 |
YKL188C |
PeroXisomal ABC-transporter |
DiOPT |
OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO; PSAB |
606581 |
FAAH |
fatty acid amide hydrolase |
2166 |
602935 |
AMD2 |
YDR242W |
AMiDase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED |
610251 |
ALDH2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
217 |
100650 |
ALD2 |
YMR170C |
ALdehyde Dehydrogenase |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED |
610251 |
ALDH2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
217 |
100650 |
ALD3 |
YMR169C |
ALdehyde Dehydrogenase |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED |
610251 |
ALDH2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
217 |
100650 |
ALD4 |
YOR374W |
ALdehyde Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED |
610251 |
ALDH2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
217 |
100650 |
ALD5 |
YER073W |
ALdehyde Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED |
610251 |
ALDH2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
217 |
100650 |
ALD6 |
YPL061W |
ALdehyde Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
No |
Yes
|
| MENTAL RETARDATION, X-LINKED 63; MRX63 |
300387 |
ACSL4 |
acyl-CoA synthetase long-chain family member 4 |
2182 |
300157 |
FAA1 |
YOR317W |
Fatty Acid Activation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 63; MRX63 |
300387 |
ACSL4 |
acyl-CoA synthetase long-chain family member 4 |
2182 |
300157 |
FAA3 |
YIL009W |
Fatty Acid Activation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 63; MRX63 |
300387 |
ACSL4 |
acyl-CoA synthetase long-chain family member 4 |
2182 |
300157 |
FAA4 |
YMR246W |
Fatty Acid Activation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT |
301310 |
ABCB7 |
ATP-binding cassette, sub-family B (MDR/TAP), member 7 |
22 |
300135 |
ATM1 |
YMR301C |
ABC Transporter, Mitochondrial |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MICROPHTHALMIA, ISOLATED 8; MCOP8 |
615113 |
ALDH1A3 |
aldehyde dehydrogenase 1 family, member A3 |
220 |
600463 |
ALD2 |
YMR170C |
ALdehyde Dehydrogenase |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| MICROPHTHALMIA, ISOLATED 8; MCOP8 |
615113 |
ALDH1A3 |
aldehyde dehydrogenase 1 family, member A3 |
220 |
600463 |
ALD3 |
YMR169C |
ALdehyde Dehydrogenase |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| MICROPHTHALMIA, ISOLATED 8; MCOP8 |
615113 |
ALDH1A3 |
aldehyde dehydrogenase 1 family, member A3 |
220 |
600463 |
ALD4 |
YOR374W |
ALdehyde Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MICROPHTHALMIA, ISOLATED 8; MCOP8 |
615113 |
ALDH1A3 |
aldehyde dehydrogenase 1 family, member A3 |
220 |
600463 |
ALD5 |
YER073W |
ALdehyde Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| MICROPHTHALMIA, ISOLATED 8; MCOP8 |
615113 |
ALDH1A3 |
aldehyde dehydrogenase 1 family, member A3 |
220 |
600463 |
ALD6 |
YPL061W |
ALdehyde Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
No |
Yes
|
| FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D |
229700 |
FBP1 |
fructose-1,6-bisphosphatase 1 |
2203 |
611570 |
FBP1 |
YLR377C |
Fructose-1,6-BisPhosphatase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, DILATED, 1X; CMD1X |
611615 |
FKTN |
fukutin |
2218 |
607440 |
MNN14 |
YJR061W |
MaNNosyltransferase regulator |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, DILATED, 1X; CMD1X |
611615 |
FKTN |
fukutin |
2218 |
607440 |
MNN4 |
YKL201C |
MaNNosyltransferase |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
253800 |
FKTN |
fukutin |
2218 |
607440 |
MNN14 |
YJR061W |
MaNNosyltransferase regulator |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
253800 |
FKTN |
fukutin |
2218 |
607440 |
MNN4 |
YKL201C |
MaNNosyltransferase |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 |
613152 |
FKTN |
fukutin |
2218 |
607440 |
MNN14 |
YJR061W |
MaNNosyltransferase regulator |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 |
613152 |
FKTN |
fukutin |
2218 |
607440 |
MNN4 |
YKL201C |
MaNNosyltransferase |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4 |
611588 |
FKTN |
fukutin |
2218 |
607440 |
MNN14 |
YJR061W |
MaNNosyltransferase regulator |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4 |
611588 |
FKTN |
fukutin |
2218 |
607440 |
MNN4 |
YKL201C |
MaNNosyltransferase |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MITCHELL-RILEY SYNDROME; MTCHRS |
615710 |
RFX6 |
regulatory factor X, 6 |
222546 |
612659 |
RFX1 |
YLR176C |
Regulatory Factor X |
DiOPT |
SonicParanoid|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| PROTOPORPHYRIA, ERYTHROPOIETIC; EPP |
177000 |
FECH |
ferrochelatase |
2235 |
612386 |
HEM15 |
YOR176W |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SJOGREN-LARSSON SYNDROME; SLS |
270200 |
ALDH3A2 |
aldehyde dehydrogenase 3 family, member A2 |
224 |
609523 |
HFD1 |
YMR110C |
Homolog of Fatty aldehyde Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| FUMARASE DEFICIENCY; FMRD |
606812 |
FH |
fumarate hydratase |
2271 |
136850 |
FUM1 |
YPL262W |
FUMarase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC |
150800 |
FH |
fumarate hydratase |
2271 |
136850 |
FUM1 |
YPL262W |
FUMarase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M |
610768 |
DOLK |
dolichol kinase |
22845 |
610746 |
SEC59 |
YMR013C |
SECretory |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO |
612651 |
ICK |
intestinal cell (MAK-like) kinase |
22858 |
612325 |
IME2 |
YJL106W |
Inducer of MEiosis |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY |
608611 |
RPIA |
ribose 5-phosphate isomerase A |
22934 |
180430 |
RKI1 |
YOR095C |
Ribose-5-phosphate Ketol-Isomerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE |
256840 |
CCT5 |
chaperonin containing TCP1, subunit 5 (epsilon) |
22948 |
610150 |
CCT5 |
YJR064W |
Chaperonin Containing TCP-1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 33; RP33 |
610359 |
SNRNP200 |
small nuclear ribonucleoprotein, U5 200kDa subunit |
23020 |
601664 |
BRR2 |
YER172C |
Bad Response to Refrigeration |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 |
602433 |
SETX |
senataxin |
23064 |
608465 |
SEN1 |
YLR430W |
Splicing ENdonuclease |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 |
606002 |
SETX |
senataxin |
23064 |
608465 |
SEN1 |
YLR430W |
Splicing ENdonuclease |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 1; MRX1 |
309530 |
IQSEC2 |
IQ motif and Sec7 domain 2 |
23096 |
300522 |
SYT1 |
YPR095C |
Suppressor of ypt3 |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD |
300263 |
PHF8 |
PHD finger protein 8 |
23133 |
300560 |
JHD1 |
YER051W |
JmjC domain-containing Histone Demethylase |
DiOPT |
Hieranoid|OrthoInspector|Ensembl Compara|OrthoFinder |
4 |
9 |
Yes |
No
|
| BRUGADA SYNDROME 2; BRGDA2 |
611777 |
GPD1L |
glycerol-3-phosphate dehydrogenase 1-like |
23171 |
611778 |
GPD1 |
YDL022W |
Glycerol-3-Phosphate Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| BRUGADA SYNDROME 2; BRGDA2 |
611777 |
GPD1L |
glycerol-3-phosphate dehydrogenase 1-like |
23171 |
611778 |
GPD2 |
YOL059W |
Glycerol-3-Phosphate Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE |
268200 |
LPIN1 |
lipin 1 |
23175 |
605518 |
PAH1 |
YMR165C |
Phosphatidic Acid phosphoHydrolase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CHOREOACANTHOCYTOSIS; CHAC |
200150 |
VPS13A |
vacuolar protein sorting 13 homolog A (S. cerevisiae) |
23230 |
605978 |
VPS13 |
YLL040C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12 |
613722 |
PLCB1 |
phospholipase C, beta 1 (phosphoinositide-specific) |
23236 |
607120 |
PLC1 |
YPL268W |
PhosphoLipase C |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 |
615033 |
DDHD2 |
DDHD domain containing 2 |
23259 |
615003 |
DDL1 |
YOR022C |
DDHD Domain-containing Lipase |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| TRIMETHYLAMINURIA; TMAU |
602079 |
FMO3 |
flavin containing monooxygenase 3 |
2328 |
136132 |
FMO1 |
YHR176W |
Flavin containing MonoOxygenase |
DiOPT |
Ensembl Compara|OrthoInspector|InParanoid|SonicParanoid |
4 |
9 |
Yes |
Yes
|
| POLYENDOCRINE-POLYNEUROPATHY SYNDROME; PEPNS |
616113 |
DMXL2 |
Dmx-like 2 |
23312 |
612186 |
RAV1 |
YJR033C |
Regulator of (H+)-ATPase in Vacuolar membrane |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 |
608808 |
MED13L |
mediator complex subunit 13-like |
23389 |
608771 |
SSN2 |
YDR443C |
Suppressor of SNf1 |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| PERRAULT SYNDROME 4; PRLTS4 |
615300 |
LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
23395 |
604544 |
NAM2 |
YLR382C |
Nuclear Accommodation of Mitochondria |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3 |
611369 |
PIP5K1C |
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma |
23396 |
606102 |
MSS4 |
YDR208W |
Multicopy Suppressor of Stt4 mutation |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| KUFOR-RAKEB SYNDROME; KRS |
606693 |
ATP13A2 |
ATPase type 13A2 |
23400 |
610513 |
YPK9 |
YOR291W |
Yeast ParK9 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| PERRAULT SYNDROME 2; PRLTS2 |
614926 |
HARS2 |
histidyl-tRNA synthetase 2, mitochondrial |
23438 |
600783 |
HTS1 |
YPR033C |
Histidine-Trna Synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYELODYSPLASTIC SYNDROME; MDS |
614286 |
SF3B1 |
splicing factor 3b, subunit 1, 155kDa |
23451 |
605590 |
HSH155 |
YMR288W |
Human Sap Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML |
255125 |
ISCU |
iron-sulfur cluster assembly enzyme |
23479 |
611911 |
ISU1 |
YPL135W |
IScU homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML |
255125 |
ISCU |
iron-sulfur cluster assembly enzyme |
23479 |
611911 |
ISU2 |
YOR226C |
IscU homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GENITOPATELLAR SYNDROME; GTPTS |
606170 |
KAT6B |
K(lysine) acetyltransferase 6B |
23522 |
605880 |
SAS3 |
YBL052C |
Something About Silencing |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| OHDO SYNDROME, SBBYS VARIANT; SBBYSS |
603736 |
KAT6B |
K(lysine) acetyltransferase 6B |
23522 |
605880 |
SAS3 |
YBL052C |
Something About Silencing |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F |
608423 |
TNPO3 |
transportin 3 |
23534 |
610032 |
MTR10 |
YOR160W |
Mrna TRansport defective |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A |
219200 |
ATP6V0A2 |
ATPase, H+ transporting, lysosomal V0 subunit a2 |
23545 |
611716 |
STV1 |
YMR054W |
Similar To VPH1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A |
219200 |
ATP6V0A2 |
ATPase, H+ transporting, lysosomal V0 subunit a2 |
23545 |
611716 |
VPH1 |
YOR270C |
Vacuolar pH |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| WRINKLY SKIN SYNDROME; WSS |
278250 |
ATP6V0A2 |
ATPase, H+ transporting, lysosomal V0 subunit a2 |
23545 |
611716 |
STV1 |
YMR054W |
Similar To VPH1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| WRINKLY SKIN SYNDROME; WSS |
278250 |
ATP6V0A2 |
ATPase, H+ transporting, lysosomal V0 subunit a2 |
23545 |
611716 |
VPH1 |
YOR270C |
Vacuolar pH |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 |
614080 |
PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
23556 |
606097 |
MCD4 |
YKL165C |
Morphogenesis Checkpoint Dependent |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
YRF1-6 |
YNL339C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
|
YBL113C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
|
YHL050C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
|
YIL177C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
|
YJL225C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
|
YLL066C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
|
YLL067C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 2; SGMRT2 |
616298 |
DDX58 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 |
23586 |
609631 |
|
YML133C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 |
614651 |
PDSS1 |
prenyl (decaprenyl) diphosphate synthase, subunit 1 |
23590 |
607429 |
COQ1 |
YBR003W |
COenzyme Q |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| STRIATONIGRAL DEGENERATION, INFANTILE; SNDI |
271930 |
NUP62 |
nucleoporin 62kDa |
23636 |
605815 |
NSP1 |
YJL041W |
NucleoSkeletal-like Protein |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| FRIEDREICH ATAXIA 1; FRDA |
229300 |
FXN |
frataxin |
2395 |
606829 |
YFH1 |
YDL120W |
Yeast Frataxin Homolog |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 9; MRX9 |
309549 |
FTSJ1 |
FtsJ RNA methyltransferase homolog 1 (E. coli) |
24140 |
300499 |
TRM7 |
YBR061C |
Transfer RNA Methyltransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 60; RP60 |
613983 |
PRPF6 |
pre-mRNA processing factor 6 |
24148 |
613979 |
PRP6 |
YBR055C |
Pre-mRNA Processing |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
DAL5 |
YJR152W |
Degradation of Allantoin |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
FEN2 |
YCR028C |
FENpropimorph resistance |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
SEO1 |
YAL067C |
Suppressor of sulfoxyde EthiOnine resistance |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
SOA1 |
YIL166C |
SulfOnAte transport |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
THI73 |
YLR004C |
THIamine regulon |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
TNA1 |
YGR260W |
Transporter of Nicotinic Acid |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
VHT1 |
YGR065C |
Vitamin H Transporter |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 |
605583 |
SLC17A8 |
solute carrier family 17 (vesicular glutamate transporter), member 8 |
246213 |
607557 |
YCT1 |
YLL055W |
Yeast Cysteine Transporter |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 |
616479 |
RNASEH1 |
ribonuclease H1 |
246243 |
604123 |
RNH1 |
YMR234W |
RNase H |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| HYPOPHOSPHATASIA, ADULT |
146300 |
ALPL |
alkaline phosphatase, liver/bone/kidney |
249 |
171760 |
PHO8 |
YDR481C |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| HYPOPHOSPHATASIA, CHILDHOOD |
241510 |
ALPL |
alkaline phosphatase, liver/bone/kidney |
249 |
171760 |
PHO8 |
YDR481C |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| HYPOPHOSPHATASIA, INFANTILE |
241500 |
ALPL |
alkaline phosphatase, liver/bone/kidney |
249 |
171760 |
PHO8 |
YDR481C |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74 |
613718 |
MSRB3 |
methionine sulfoxide reductase B3 |
253827 |
613719 |
MXR2 |
YCL033C |
peptide Methionine sulfoXide Reductase |
DiOPT |
SonicParanoid|OrthoInspector|Hieranoid|InParanoid |
4 |
9 |
Yes |
No
|
| ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY |
300908 |
G6PD |
glucose-6-phosphate dehydrogenase |
2539 |
305900 |
ZWF1 |
YNL241C |
ZWischenFerment |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| FAVISM, SUSCEPTIBILITY TO |
134700 |
G6PD |
glucose-6-phosphate dehydrogenase |
2539 |
305900 |
ZWF1 |
YNL241C |
ZWischenFerment |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MALARIA, SUSCEPTIBILITY TO MALARIA, RESISTANCE TO, INCLUDED |
611162 |
G6PD |
glucose-6-phosphate dehydrogenase |
2539 |
305900 |
ZWF1 |
YNL241C |
ZWischenFerment |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 |
603776 |
PCSK9 |
proprotein convertase subtilisin/kexin type 9 |
255738 |
607786 |
PRB1 |
YEL060C |
PRoteinase B |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 |
603776 |
PCSK9 |
proprotein convertase subtilisin/kexin type 9 |
255738 |
607786 |
RRT12 |
YCR045C |
Regulator of rDNA Transcription |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 |
603776 |
PCSK9 |
proprotein convertase subtilisin/kexin type 9 |
255738 |
607786 |
YSP3 |
YOR003W |
Yeast Subtilisin-like Protease III |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
RAD54B |
RAD54 homolog B (S. cerevisiae) |
25788 |
604289 |
RDH54 |
YBR073W |
RaD54 Homolog |
DiOPT |
Hieranoid|PANTHER|Ensembl Compara|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| LYMPHOMA, NON-HODGKIN, FAMILIAL |
605027 |
RAD54B |
RAD54 homolog B (S. cerevisiae) |
25788 |
604289 |
RDH54 |
YBR073W |
RaD54 Homolog |
DiOPT |
Hieranoid|PANTHER|Ensembl Compara|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 10; SCA10 |
603516 |
ATXN10 |
ataxin 10 |
25814 |
611150 |
CTR86 |
YCR054C |
Copper TRansport protein |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
Yes
|
| GALACTOSE EPIMERASE DEFICIENCY |
230350 |
GALE |
UDP-galactose-4-epimerase |
2582 |
606953 |
GAL10 |
YBR019C |
GALactose metabolism |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 |
614702 |
MTO1 |
mitochondrial tRNA translation optimization 1 |
25821 |
614667 |
MTO1 |
YGL236C |
Mitochondrial Translation Optimization |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CORNELIA DE LANGE SYNDROME 1; CDLS1 |
122470 |
NIPBL |
Nipped-B homolog (Drosophila) |
25836 |
608667 |
SCC2 |
YDR180W |
Sister Chromatid Cohesion |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J |
613489 |
COG4 |
component of oligomeric golgi complex 4 |
25839 |
606976 |
COG4 |
YPR105C |
Conserved Oligomeric Golgi complex |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN |
616462 |
POLR1A |
polymerase (RNA) I polypeptide A |
25885 |
616404 |
RPA190 |
YOR341W |
RNA Polymerase A |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GALACTOSEMIA |
230400 |
GALT |
galactose-1-phosphate uridylyltransferase |
2592 |
606999 |
GAL7 |
YBR018C |
GALactose metabolism |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD |
616266 |
NALCN |
sodium leak channel, non selective |
259232 |
611549 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|PhylomeDB |
3 |
9 |
Yes |
No
|
| HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; IHPRF |
615419 |
NALCN |
sodium leak channel, non selective |
259232 |
611549 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|PhylomeDB |
3 |
9 |
Yes |
No
|
| CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 |
612736 |
GAMT |
guanidinoacetate N-methyltransferase |
2593 |
601240 |
RMT2 |
YDR465C |
aRginine MeThyltransferase |
DiOPT |
OrthoInspector|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 |
118800 |
PNKD |
paroxysmal nonkinesigenic dyskinesia |
25953 |
609023 |
GLO2 |
YDR272W |
GLyOxalase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 |
118800 |
PNKD |
paroxysmal nonkinesigenic dyskinesia |
25953 |
609023 |
GLO4 |
YOR040W |
GLyOxalase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 |
607688 |
GIGYF2 |
GRB10 interacting GYF protein 2 |
26058 |
612003 |
SMY2 |
YBR172C |
Suppressor of MYo2-66 |
DiOPT |
PANTHER|InParanoid|OrthoFinder |
3 |
9 |
Yes |
No
|
| PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 |
607688 |
GIGYF2 |
GRB10 interacting GYF protein 2 |
26058 |
612003 |
SYH1 |
YPL105C |
SmY2 Homolog |
DiOPT |
OrthoFinder|InParanoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 11; RP11 |
600138 |
PRPF31 |
pre-mRNA processing factor 31 |
26121 |
606419 |
PRP31 |
YGR091W |
Pre-mRNA Processing |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D |
601472 |
GARS |
glycyl-tRNA synthetase |
2617 |
600287 |
GRS1 |
YBR121C |
Glycyl-tRNA Synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D |
601472 |
GARS |
glycyl-tRNA synthetase |
2617 |
600287 |
GRS2 |
YPR081C |
Glycyl-tRNA Synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A |
600794 |
GARS |
glycyl-tRNA synthetase |
2617 |
600287 |
GRS1 |
YBR121C |
Glycyl-tRNA Synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A |
600794 |
GARS |
glycyl-tRNA synthetase |
2617 |
600287 |
GRS2 |
YPR081C |
Glycyl-tRNA Synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM |
222100 |
PTPN22 |
protein tyrosine phosphatase, non-receptor type 22 (lymphoid) |
26191 |
600716 |
PTP1 |
YDL230W |
Protein Tyrosine Phosphatase |
DiOPT |
SonicParanoid|Ensembl Compara|Hieranoid |
3 |
9 |
Yes |
No
|
| RHEUMATOID ARTHRITIS; RA |
180300 |
PTPN22 |
protein tyrosine phosphatase, non-receptor type 22 (lymphoid) |
26191 |
600716 |
PTP1 |
YDL230W |
Protein Tyrosine Phosphatase |
DiOPT |
SonicParanoid|Ensembl Compara|Hieranoid |
3 |
9 |
Yes |
No
|
| SYSTEMIC LUPUS ERYTHEMATOSUS; SLE EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED |
152700 |
PTPN22 |
protein tyrosine phosphatase, non-receptor type 22 (lymphoid) |
26191 |
600716 |
PTP1 |
YDL230W |
Protein Tyrosine Phosphatase |
DiOPT |
SonicParanoid|Ensembl Compara|Hieranoid |
3 |
9 |
Yes |
No
|
| NEU-LAXOVA SYNDROME 1; NLS1 |
256520 |
PHGDH |
phosphoglycerate dehydrogenase |
26227 |
606879 |
SER3 |
YER081W |
SERine requiring |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
Yes
|
| NEU-LAXOVA SYNDROME 1; NLS1 |
256520 |
PHGDH |
phosphoglycerate dehydrogenase |
26227 |
606879 |
SER33 |
YIL074C |
SERine requiring |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
Yes
|
| PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD |
601815 |
PHGDH |
phosphoglycerate dehydrogenase |
26227 |
606879 |
SER3 |
YER081W |
SERine requiring |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
Yes
|
| PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD |
601815 |
PHGDH |
phosphoglycerate dehydrogenase |
26227 |
606879 |
SER33 |
YIL074C |
SERine requiring |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
Yes
|
| ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; XLANP |
300835 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; XLANP |
300835 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| DOWN SYNDROME TRISOMY 21, INCLUDED |
190685 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| DOWN SYNDROME TRISOMY 21, INCLUDED |
190685 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT |
314050 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT |
314050 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA |
300367 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA |
300367 |
GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
2623 |
305371 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| IMMUNODEFICIENCY 21; IMD21 |
614172 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| IMMUNODEFICIENCY 21; IMD21 |
614172 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| LEUKEMIA, ACUTE MYELOID; AML |
601626 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| LEUKEMIA, ACUTE MYELOID; AML |
601626 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA |
614038 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA |
614038 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| MYELODYSPLASTIC SYNDROME; MDS |
614286 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| MYELODYSPLASTIC SYNDROME; MDS |
614286 |
GATA2 |
GATA binding protein 2 |
2624 |
137295 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR |
146255 |
GATA3 |
GATA binding protein 3 |
2625 |
131320 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR |
146255 |
GATA3 |
GATA binding protein 3 |
2625 |
131320 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIAL SEPTAL DEFECT 2; ASD2 |
607941 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIAL SEPTAL DEFECT 2; ASD2 |
607941 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4 |
614430 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4 |
614430 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD |
615542 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD |
615542 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| TETRALOGY OF FALLOT; TOF |
187500 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| TETRALOGY OF FALLOT; TOF |
187500 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| VENTRICULAR SEPTAL DEFECT 1; VSD1 |
614429 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| VENTRICULAR SEPTAL DEFECT 1; VSD1 |
614429 |
GATA4 |
GATA binding protein 4 |
2626 |
600576 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIAL SEPTAL DEFECT 9; ASD9 |
614475 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIAL SEPTAL DEFECT 9; ASD9 |
614475 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5 |
614474 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5 |
614474 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| CONOTRUNCAL HEART MALFORMATIONS; CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED |
217095 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| CONOTRUNCAL HEART MALFORMATIONS; CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED |
217095 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA |
600001 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA |
600001 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| TETRALOGY OF FALLOT; TOF |
187500 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GAT1 |
YFL021W |
|
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| TETRALOGY OF FALLOT; TOF |
187500 |
GATA6 |
GATA binding protein 6 |
2627 |
601656 |
GZF3 |
YJL110C |
Gata Zinc Finger protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD |
250620 |
HIBCH |
3-hydroxyisobutyryl-CoA hydrolase |
26275 |
610690 |
EHD3 |
YDR036C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1 |
208085 |
VPS33B |
vacuolar protein sorting 33 homolog B (yeast) |
26276 |
608552 |
VPS33 |
YLR396C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| GLYCOGEN STORAGE DISEASE IV; GSD4 |
232500 |
GBE1 |
glucan (1,4-alpha-), branching enzyme 1 |
2632 |
607839 |
GLC3 |
YEL011W |
GLyCogen |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN |
263570 |
GBE1 |
glucan (1,4-alpha-), branching enzyme 1 |
2632 |
607839 |
GLC3 |
YEL011W |
GLyCogen |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DYSTONIA, DOPA-RESPONSIVE; DRD |
128230 |
GCH1 |
GTP cyclohydrolase 1 |
2643 |
600225 |
FOL2 |
YGR267C |
FOLic acid synthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B |
233910 |
GCH1 |
GTP cyclohydrolase 1 |
2643 |
600225 |
FOL2 |
YGR267C |
FOLic acid synthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
EMI2 |
YDR516C |
Early Meiotic Induction |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
GLK1 |
YCL040W |
GLucoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK1 |
YFR053C |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK2 |
YGL253W |
HeXoKinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, PERMANENT NEONATAL; PNDM |
606176 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
EMI2 |
YDR516C |
Early Meiotic Induction |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| DIABETES MELLITUS, PERMANENT NEONATAL; PNDM |
606176 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
GLK1 |
YCL040W |
GLucoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| DIABETES MELLITUS, PERMANENT NEONATAL; PNDM |
606176 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK1 |
YFR053C |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| DIABETES MELLITUS, PERMANENT NEONATAL; PNDM |
606176 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK2 |
YGL253W |
HeXoKinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 |
602485 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
EMI2 |
YDR516C |
Early Meiotic Induction |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 |
602485 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
GLK1 |
YCL040W |
GLucoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 |
602485 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK1 |
YFR053C |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 |
602485 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK2 |
YGL253W |
HeXoKinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 |
125851 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
EMI2 |
YDR516C |
Early Meiotic Induction |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 |
125851 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
GLK1 |
YCL040W |
GLucoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
5 |
9 |
No |
Yes
|
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 |
125851 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK1 |
YFR053C |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 |
125851 |
GCK |
glucokinase (hexokinase 4) |
2645 |
138079 |
HXK2 |
YGL253W |
HeXoKinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
DAL5 |
YJR152W |
Degradation of Allantoin |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
FEN2 |
YCR028C |
FENpropimorph resistance |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
SEO1 |
YAL067C |
Suppressor of sulfoxyde EthiOnine resistance |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
SOA1 |
YIL166C |
SulfOnAte transport |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
THI73 |
YLR004C |
THIamine regulon |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
TNA1 |
YGR260W |
Transporter of Nicotinic Acid |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
VHT1 |
YGR065C |
Vitamin H Transporter |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| INFANTILE SIALIC ACID STORAGE DISEASE; ISSD |
269920 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
YCT1 |
YLL055W |
Yeast Cysteine Transporter |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
DAL5 |
YJR152W |
Degradation of Allantoin |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
FEN2 |
YCR028C |
FENpropimorph resistance |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
SEO1 |
YAL067C |
Suppressor of sulfoxyde EthiOnine resistance |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
SOA1 |
YIL166C |
SulfOnAte transport |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
THI73 |
YLR004C |
THIamine regulon |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
TNA1 |
YGR260W |
Transporter of Nicotinic Acid |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
VHT1 |
YGR065C |
Vitamin H Transporter |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| SALLA DISEASE; SD |
604369 |
SLC17A5 |
solute carrier family 17 (acidic sugar transporter), member 5 |
26503 |
604322 |
YCT1 |
YLL055W |
Yeast Cysteine Transporter |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| JALILI SYNDROME |
217080 |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
26504 |
607805 |
MAM3 |
YOL060C |
|
DiOPT |
Ensembl Compara|OrthoInspector|SonicParanoid |
3 |
9 |
Yes |
Yes
|
| GLYCINE ENCEPHALOPATHY; GCE |
605899 |
GCSH |
glycine cleavage system protein H (aminomethyl carrier) |
2653 |
238330 |
GCV3 |
YAL044C |
GlyCine cleaVage |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ANIRIDIA; AN |
106210 |
ELP4 |
elongator acetyltransferase complex subunit 4 |
26610 |
606985 |
ELP4 |
YPL101W |
ELongator Protein |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 41; MRX41 |
300849 |
GDI1 |
GDP dissociation inhibitor 1 |
2664 |
300104 |
GDI1 |
YER136W |
GDP Dissociation Inhibitor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY |
613076 |
GFER |
growth factor, augmenter of liver regeneration |
2671 |
600924 |
ERV1 |
YGR029W |
Essential for Respiration and Viability |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 |
610542 |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
2673 |
138292 |
GFA1 |
YKL104C |
Glutamine:Fructose-6-phosphate Amidotransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 |
610542 |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
2673 |
138292 |
|
YMR084W |
|
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 |
610542 |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
2673 |
138292 |
|
YMR085W |
|
DiOPT |
Ensembl Compara|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| 5-OXOPROLINASE DEFICIENCY; OPLAHD |
260005 |
OPLAH |
5-oxoprolinase (ATP-hydrolysing) |
26873 |
614243 |
OXP1 |
YKL215C |
OXoProlinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD |
615511 |
AMPD1 |
adenosine monophosphate deaminase 1 |
270 |
102770 |
AMD1 |
YML035C |
AMP Deaminase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5 |
614458 |
TPK1 |
thiamin pyrophosphokinase 1 |
27010 |
606370 |
THI80 |
YOR143C |
THIamine metabolism |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
MLH3 |
mutL homolog 3 |
27030 |
604395 |
MLH3 |
YPL164C |
MutL Homolog |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7 |
614385 |
MLH3 |
mutL homolog 3 |
27030 |
604395 |
MLH3 |
YPL164C |
MutL Homolog |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ENDOMETRIAL CANCER |
608089 |
MLH3 |
mutL homolog 3 |
27030 |
604395 |
MLH3 |
YPL164C |
MutL Homolog |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| BENIGN CHRONIC PEMPHIGUS; BCPM |
169600 |
ATP2C1 |
ATPase, Ca++ transporting, type 2C, member 1 |
27032 |
604384 |
PMR1 |
YGL167C |
Plasma Membrane ATPase Related |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4 |
615159 |
UQCRQ |
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa |
27089 |
612080 |
QCR8 |
YJL166W |
ubiQuinol-cytochrome C oxidoReductase |
DiOPT |
Ensembl Compara|OrthoFinder|Hieranoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9 |
615809 |
AMPD2 |
adenosine monophosphate deaminase 2 |
271 |
102771 |
AMD1 |
YML035C |
AMP Deaminase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63 |
615686 |
AMPD2 |
adenosine monophosphate deaminase 2 |
271 |
102771 |
AMD1 |
YML035C |
AMP Deaminase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLYCEROL KINASE DEFICIENCY; GKD |
307030 |
GK |
glycerol kinase |
2710 |
300474 |
GUT1 |
YHL032C |
Glycerol UTilization |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ERYTHROCYTE AMP DEAMINASE DEFICIENCY |
612874 |
AMPD3 |
adenosine monophosphate deaminase 3 |
272 |
102772 |
AMD1 |
YML035C |
AMP Deaminase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 |
607426 |
COQ2 |
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
27235 |
609825 |
COQ2 |
YNR041C |
COenzyme Q |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 |
146500 |
COQ2 |
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
27235 |
609825 |
COQ2 |
YNR041C |
COenzyme Q |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 |
605711 |
NFU1 |
NFU1 iron-sulfur cluster scaffold |
27247 |
608100 |
NFU1 |
YKL040C |
NifU-like protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO |
230450 |
GCLC |
glutamate-cysteine ligase, catalytic subunit |
2729 |
606857 |
GSH1 |
YJL101C |
glutathione (GSH) |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1, INCLUDED; MCI1, INCLUDED |
608446 |
GCLC |
glutamate-cysteine ligase, catalytic subunit |
2729 |
606857 |
GSH1 |
YJL101C |
glutathione (GSH) |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCINE ENCEPHALOPATHY; GCE |
605899 |
GLDC |
glycine dehydrogenase (decarboxylating) |
2731 |
238300 |
GCV2 |
YMR189W |
GlyCine cleaVage |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD |
611890 |
GLE1 |
GLE1 RNA export mediator |
2733 |
603371 |
GLE1 |
YDL207W |
GLFG (glycine-leucine-phenylalanine-glycine) LEthal |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1 |
253310 |
GLE1 |
GLE1 RNA export mediator |
2733 |
603371 |
GLE1 |
YDL207W |
GLFG (glycine-leucine-phenylalanine-glycine) LEthal |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 |
606762 |
GLUD1 |
glutamate dehydrogenase 1 |
2746 |
138130 |
GDH1 |
YOR375C |
Glutamate DeHydrogenase |
DiOPT |
OrthoInspector|InParanoid |
2 |
9 |
Yes |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 |
606762 |
GLUD1 |
glutamate dehydrogenase 1 |
2746 |
138130 |
GDH3 |
YAL062W |
Glutamate DeHydrogenase |
DiOPT |
OrthoInspector|InParanoid |
2 |
9 |
Yes |
Yes
|
| GLYCINE ENCEPHALOPATHY; GCE |
605899 |
AMT |
aminomethyltransferase |
275 |
238310 |
GCV1 |
YDR019C |
GlyCine cleaVage |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLUTAMINE DEFICIENCY, CONGENITAL |
610015 |
GLUL |
glutamate-ammonia ligase |
2752 |
138290 |
GLN1 |
YPR035W |
GLutamiNe metabolism |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2 |
615361 |
GNA11 |
guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
2767 |
139313 |
GPA2 |
YER020W |
G Protein Alpha subunit |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
No
|
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2 |
145981 |
GNA11 |
guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
2767 |
139313 |
GPA2 |
YER020W |
G Protein Alpha subunit |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
No
|
| VENTRICULAR TACHYCARDIA, FAMILIAL |
192605 |
GNAI2 |
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 |
2771 |
139360 |
GPA1 |
YHR005C |
G Protein Alpha subunit |
DiOPT |
OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| VENTRICULAR TACHYCARDIA, FAMILIAL |
192605 |
GNAI2 |
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 |
2771 |
139360 |
GPA2 |
YER020W |
G Protein Alpha subunit |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
No |
Yes
|
| AURICULOCONDYLAR SYNDROME 1; ARCND1 |
602483 |
GNAI3 |
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 |
2773 |
139370 |
GPA1 |
YHR005C |
G Protein Alpha subunit |
DiOPT |
OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17 |
615473 |
GNAO1 |
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O |
2775 |
139311 |
GPA1 |
YHR005C |
G Protein Alpha subunit |
DiOPT |
OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| CAPILLARY MALFORMATIONS, CONGENITAL; CMC |
163000 |
GNAQ |
guanine nucleotide binding protein (G protein), q polypeptide |
2776 |
600998 |
GPA2 |
YER020W |
G Protein Alpha subunit |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
No
|
| STURGE-WEBER SYNDROME; SWS |
185300 |
GNAQ |
guanine nucleotide binding protein (G protein), q polypeptide |
2776 |
600998 |
GPA2 |
YER020W |
G Protein Alpha subunit |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
No
|
| NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 |
610444 |
GNAT1 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
2779 |
139330 |
GPA1 |
YHR005C |
G Protein Alpha subunit |
DiOPT |
OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G |
616389 |
GNAT1 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
2779 |
139330 |
GPA1 |
YHR005C |
G Protein Alpha subunit |
DiOPT |
OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ACHROMATOPSIA 4; ACHM4 |
613856 |
GNAT2 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 |
2780 |
139340 |
GPA1 |
YHR005C |
G Protein Alpha subunit |
DiOPT |
OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| HYPERTENSION, ESSENTIAL |
145500 |
GNB3 |
guanine nucleotide binding protein (G protein), beta polypeptide 3 |
2784 |
139130 |
STE4 |
YOR212W |
STErile |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 |
614419 |
GOT1 |
glutamic-oxaloacetic transaminase 1, soluble |
2805 |
138180 |
AAT2 |
YLR027C |
Aspartate AminoTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI |
614480 |
GPD1 |
glycerol-3-phosphate dehydrogenase 1 |
2819 |
138420 |
GPD1 |
YDL022W |
Glycerol-3-Phosphate Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI |
614480 |
GPD1 |
glycerol-3-phosphate dehydrogenase 1 |
2819 |
138420 |
GPD2 |
YOL059W |
Glycerol-3-Phosphate Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
GPD2 |
glycerol-3-phosphate dehydrogenase 2 |
2820 |
138430 |
GUT2 |
YIL155C |
Glycerol UTilization |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY |
613470 |
GPI |
glucose-6-phosphate isomerase |
2821 |
172400 |
PGI1 |
YBR196C |
PhosphoGlucoIsomerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A |
277470 |
TSEN54 |
TSEN54 tRNA splicing endonuclease subunit |
283989 |
608755 |
SEN54 |
YPL083C |
Splicing ENdonuclease |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 |
225753 |
TSEN54 |
TSEN54 tRNA splicing endonuclease subunit |
283989 |
608755 |
SEN54 |
YPL083C |
Splicing ENdonuclease |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 |
610204 |
TSEN54 |
TSEN54 tRNA splicing endonuclease subunit |
283989 |
608755 |
SEN54 |
YPL083C |
Splicing ENdonuclease |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5 |
616025 |
PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
284098 |
610275 |
GWT1 |
YJL091C |
GPI-anchored Wall protein Transfer |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25 |
615905 |
SLC13A5 |
solute carrier family 13 (sodium-dependent citrate transporter), member 5 |
284111 |
608305 |
PHO87 |
YCR037C |
PHOsphate metabolism |
DiOPT |
Hieranoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
No
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25 |
615905 |
SLC13A5 |
solute carrier family 13 (sodium-dependent citrate transporter), member 5 |
284111 |
608305 |
PHO90 |
YJL198W |
PHOsphate metabolism |
DiOPT |
Hieranoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25 |
615905 |
SLC13A5 |
solute carrier family 13 (sodium-dependent citrate transporter), member 5 |
284111 |
608305 |
PHO91 |
YNR013C |
PHOsphate metabolism |
DiOPT |
Hieranoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
Yes
|
| AUTISM, SUSCEPTIBILITY TO, 16; AUTS16 |
613410 |
SLC9A9 |
solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 |
285195 |
608396 |
NHX1 |
YDR456W |
Na+/H+ eXchanger |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| FRANK-TER HAAR SYNDROME; FTHS |
249420 |
SH3PXD2B |
SH3 and PX domains 2B |
285590 |
613293 |
BEM1 |
YBR200W |
Bud EMergence |
DiOPT |
OrthoInspector|PANTHER |
2 |
9 |
Yes |
Yes
|
| AL-RAQAD SYNDROME; ARS |
616459 |
DCPS |
decapping enzyme, scavenger |
28960 |
610534 |
DCS1 |
YLR270W |
DeCapping Scavenger |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AL-RAQAD SYNDROME; ARS |
616459 |
DCPS |
decapping enzyme, scavenger |
28960 |
610534 |
DCS2 |
YOR173W |
DeCapping Scavenger |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 |
615418 |
SLC25A4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
291 |
103220 |
AAC1 |
YMR056C |
ADP/ATP Carrier |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 |
615418 |
SLC25A4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
291 |
103220 |
AAC3 |
YBR085W |
ADP/ATP Carrier |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 |
615418 |
SLC25A4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
291 |
103220 |
PET9 |
YBL030C |
PETite |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 |
609283 |
SLC25A4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
291 |
103220 |
AAC1 |
YMR056C |
ADP/ATP Carrier |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 |
609283 |
SLC25A4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
291 |
103220 |
AAC3 |
YBR085W |
ADP/ATP Carrier |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 |
609283 |
SLC25A4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
291 |
103220 |
PET9 |
YBL030C |
PETite |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD |
266130 |
GSS |
glutathione synthetase |
2937 |
601002 |
GSH2 |
YOL049W |
Glutathione |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO; GSSDE |
231900 |
GSS |
glutathione synthetase |
2937 |
601002 |
GSH2 |
YOL049W |
Glutathione |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5 |
614350 |
MSH6 |
mutS homolog 6 |
2956 |
600678 |
MSH6 |
YDR097C |
MutS Homolog |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ENDOMETRIAL CANCER |
608089 |
MSH6 |
mutS homolog 6 |
2956 |
600678 |
MSH6 |
YDR097C |
MutS Homolog |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MISMATCH REPAIR CANCER SYNDROME; MMRCS |
276300 |
MSH6 |
mutS homolog 6 |
2956 |
600678 |
MSH6 |
YDR097C |
MutS Homolog |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CEREBELLOFACIODENTAL SYNDROME; CFDS |
616202 |
BRF1 |
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit |
2972 |
604902 |
BRF1 |
YGR246C |
B-Related Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| OVARIAN DYSGENESIS 3; ODG3 |
614324 |
PSMC3IP |
PSMC3 interacting protein |
29893 |
608665 |
HOP2 |
YGL033W |
HOmologous Pairing |
DiOPT |
OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE XV; GSD15 |
613507 |
GYG1 |
glycogenin 1 |
2992 |
603942 |
GLG1 |
YKR058W |
Glycogenin-Like Gene |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| POLYGLUCOSAN BODY MYOPATHY 2; PGBM2 |
616199 |
GYG1 |
glycogenin 1 |
2992 |
603942 |
GLG1 |
YKR058W |
Glycogenin-Like Gene |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10 |
616420 |
PYCR2 |
pyrroline-5-carboxylate reductase family, member 2 |
29920 |
616406 |
PRO3 |
YER023W |
PROline requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 |
615350 |
GMPPB |
GDP-mannose pyrophosphorylase B |
29925 |
615320 |
PSA1 |
YDL055C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 |
615351 |
GMPPB |
GDP-mannose pyrophosphorylase B |
29925 |
615320 |
PSA1 |
YDL055C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14 |
615352 |
GMPPB |
GDP-mannose pyrophosphorylase B |
29925 |
615320 |
PSA1 |
YDL055C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C |
603147 |
ALG6 |
ALG6, alpha-1,3-glucosyltransferase |
29929 |
604566 |
ALG6 |
YOR002W |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 |
613150 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT2 |
YAL023C |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 |
613150 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT3 |
YOR321W |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 |
613150 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT6 |
YGR199W |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
No |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 |
613156 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT2 |
YAL023C |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 |
613156 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT3 |
YOR321W |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 |
613156 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT6 |
YGR199W |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
No |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2 |
613158 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT2 |
YAL023C |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2 |
613158 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT3 |
YOR321W |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2 |
613158 |
POMT2 |
protein-O-mannosyltransferase 2 |
29954 |
607439 |
PMT6 |
YGR199W |
Protein O-MannosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
No |
Yes
|
| NEU-LAXOVA SYNDROME 2; NLS2 |
616038 |
PSAT1 |
phosphoserine aminotransferase 1 |
29968 |
610936 |
SER1 |
YOR184W |
SERine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD |
610992 |
PSAT1 |
phosphoserine aminotransferase 1 |
29968 |
610936 |
SER1 |
YOR184W |
SERine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE 0, MUSCLE; GSD0B |
611556 |
GYS1 |
glycogen synthase 1 (muscle) |
2997 |
138570 |
GSY1 |
YFR015C |
Glycogen SYnthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE 0, MUSCLE; GSD0B |
611556 |
GYS1 |
glycogen synthase 1 (muscle) |
2997 |
138570 |
GSY2 |
YLR258W |
Glycogen SYnthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS15 |
300857 |
UBQLN2 |
ubiquilin 2 |
29978 |
300264 |
DSK2 |
YMR276W |
Dominant Suppressor of kar1 |
DiOPT |
OrthoInspector|OrthoFinder|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A |
240600 |
GYS2 |
glycogen synthase 2 (liver) |
2998 |
138571 |
GSY1 |
YFR015C |
Glycogen SYnthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A |
240600 |
GYS2 |
glycogen synthase 2 (liver) |
2998 |
138571 |
GSY2 |
YLR258W |
Glycogen SYnthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY |
614033 |
HAGH |
hydroxyacylglutathione hydrolase |
3029 |
138760 |
GLO2 |
YDR272W |
GLyOxalase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY |
614033 |
HAGH |
hydroxyacylglutathione hydrolase |
3029 |
138760 |
GLO4 |
YOR040W |
GLyOxalase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
No |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W; CMT2W |
616625 |
HARS |
histidyl-tRNA synthetase |
3035 |
142810 |
HTS1 |
YPR033C |
Histidine-Trna Synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| USHER SYNDROME, TYPE IIIB; USH3B |
614504 |
HARS |
histidyl-tRNA synthetase |
3035 |
142810 |
HTS1 |
YPR033C |
Histidine-Trna Synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 |
309801 |
HCCS |
holocytochrome c synthase |
3052 |
300056 |
CYC3 |
YAL039C |
CYtochrome C |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PROSTATE CANCER |
176807 |
HIP1 |
huntingtin interacting protein 1 |
3092 |
601767 |
SLA2 |
YNL243W |
Synthetic Lethal with ABP1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN |
137200 |
HINT1 |
histidine triad nucleotide binding protein 1 |
3094 |
601314 |
HNT1 |
YDL125C |
Histidine triad NucleoTide-binding |
DiOPT |
Ensembl Compara|OrthoInspector|OMA|InParanoid |
4 |
9 |
Yes |
Yes
|
| HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY |
235700 |
HK1 |
hexokinase 1 |
3098 |
142600 |
HXK1 |
YFR053C |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
No
|
| HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY |
235700 |
HK1 |
hexokinase 1 |
3098 |
142600 |
HXK2 |
YGL253W |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
No
|
| NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR |
605285 |
HK1 |
hexokinase 1 |
3098 |
142600 |
HXK1 |
YFR053C |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
No
|
| NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR |
605285 |
HK1 |
hexokinase 1 |
3098 |
142600 |
HXK2 |
YGL253W |
HeXoKinase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
No
|
| ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD |
613933 |
ACACA |
acetyl-CoA carboxylase alpha |
31 |
200350 |
ACC1 |
YNR016C |
Acetyl-CoA Carboxylase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD |
613933 |
ACACA |
acetyl-CoA carboxylase alpha |
31 |
200350 |
HFA1 |
YMR207C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
253270 |
HLCS |
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) |
3141 |
609018 |
BPL1 |
YDL141W |
Biotin:apoProtein Ligase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PORPHYRIA, ACUTE INTERMITTENT; AIP |
176000 |
HMBS |
hydroxymethylbilane synthase |
3145 |
609806 |
HEM3 |
YDL205C |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 |
300915 |
HMGB3 |
high mobility group box 3 |
3149 |
300193 |
ABF2 |
YMR072W |
ARS-Binding Factor |
DiOPT |
OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 |
300915 |
HMGB3 |
high mobility group box 3 |
3149 |
300193 |
NHP6B |
YBR089C-A |
Non-Histone Protein |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
No |
Yes
|
| 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD |
246450 |
HMGCL |
3-hydroxymethyl-3-methylglutaryl-CoA lyase |
3155 |
613898 |
LYS20 |
YDL182W |
LYSine requiring |
DiOPT |
Ensembl Compara|InParanoid |
2 |
9 |
Yes |
Yes
|
| 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD |
246450 |
HMGCL |
3-hydroxymethyl-3-methylglutaryl-CoA lyase |
3155 |
613898 |
LYS21 |
YDL131W |
LYSine |
DiOPT |
Ensembl Compara|InParanoid |
2 |
9 |
Yes |
Yes
|
| 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY; HMGCS2D |
605911 |
HMGCS2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) |
3158 |
600234 |
ERG13 |
YML126C |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| HEME OXYGENASE 1 DEFICIENCY; HMOX1D |
614034 |
HMOX1 |
heme oxygenase 1 |
3162 |
141250 |
HMX1 |
YLR205C |
HeMe oXygenase |
DiOPT |
OrthoInspector|OrthoFinder|PhylomeDB|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET, INCLUDED |
606963 |
HMOX1 |
heme oxygenase 1 |
3162 |
141250 |
HMX1 |
YLR205C |
HeMe oXygenase |
DiOPT |
OrthoInspector|OrthoFinder|PhylomeDB|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20 |
615426 |
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
3178 |
164017 |
HRP1 |
YOL123W |
Heterogenous nuclear RibonucleoProtein |
DiOPT |
Ensembl Compara|Hieranoid|InParanoid |
3 |
9 |
Yes |
Yes
|
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 |
615424 |
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
3178 |
164017 |
HRP1 |
YOL123W |
Heterogenous nuclear RibonucleoProtein |
DiOPT |
Ensembl Compara|Hieranoid|InParanoid |
3 |
9 |
Yes |
Yes
|
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 |
615422 |
HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
3181 |
600124 |
NSR1 |
YGR159C |
|
DiOPT |
Ensembl Compara|OMA |
2 |
9 |
Yes |
Yes
|
| AU-KLINE SYNDROME; AUKS |
616580 |
HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
3190 |
600712 |
PBP2 |
YBR233W |
Pbp1p Binding Protein |
DiOPT |
Hieranoid|InParanoid|PANTHER |
3 |
9 |
Yes |
No
|
| CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2 |
614662 |
HSD11B1 |
hydroxysteroid (11-beta) dehydrogenase 1 |
3290 |
600713 |
IRC24 |
YIR036C |
Increased Recombination Centers |
DiOPT |
Ensembl Compara|OrthoInspector|OMA|InParanoid |
4 |
9 |
Yes |
Yes
|
| CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2 |
614662 |
HSD11B1 |
hydroxysteroid (11-beta) dehydrogenase 1 |
3290 |
600713 |
NRE1 |
YIR035C |
Novel REductase |
DiOPT |
Ensembl Compara|OrthoInspector|InParanoid |
3 |
9 |
No |
Yes
|
| 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY |
264300 |
HSD17B3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
3293 |
605573 |
IFA38 |
YBR159W |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
Yes
|
| D-BIFUNCTIONAL PROTEIN DEFICIENCY |
261515 |
HSD17B4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
3295 |
601860 |
FOX2 |
YKR009C |
Fatty acid OXidation |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PERRAULT SYNDROME 1; PRLTS1 |
233400 |
HSD17B4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
3295 |
601860 |
FOX2 |
YKR009C |
Fatty acid OXidation |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CATARACT 5, MULTIPLE TYPES; CTRCT5 |
116800 |
HSF4 |
heat shock transcription factor 4 |
3299 |
602438 |
HSF1 |
YGL073W |
Heat Shock transcription Factor |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
No
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T |
616233 |
DNAJB2 |
DnaJ (Hsp40) homolog, subfamily B, member 2 |
3300 |
604139 |
HLJ1 |
YMR161W |
HomoLogous to E. coli dnaJ protein |
DiOPT |
Ensembl Compara|InParanoid|OrthoFinder |
3 |
9 |
Yes |
No
|
| SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5 |
614881 |
DNAJB2 |
DnaJ (Hsp40) homolog, subfamily B, member 2 |
3300 |
604139 |
HLJ1 |
YMR161W |
HomoLogous to E. coli dnaJ protein |
DiOPT |
Ensembl Compara|InParanoid|OrthoFinder |
3 |
9 |
Yes |
No
|
| LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 |
612233 |
HSPD1 |
heat shock 60kDa protein 1 (chaperonin) |
3329 |
118190 |
HSP60 |
YLR259C |
Heat Shock Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 |
605280 |
HSPD1 |
heat shock 60kDa protein 1 (chaperonin) |
3329 |
118190 |
HSP60 |
YLR259C |
Heat Shock Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLIOMA SUSCEPTIBILITY 1; GLM1 GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED |
137800 |
IDH1 |
isocitrate dehydrogenase 1 (NADP+), soluble |
3417 |
147700 |
IDP1 |
YDL066W |
Isocitrate Dehydrogenase, NADP-specific |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| GLIOMA SUSCEPTIBILITY 1; GLM1 GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED |
137800 |
IDH1 |
isocitrate dehydrogenase 1 (NADP+), soluble |
3417 |
147700 |
IDP2 |
YLR174W |
Isocitrate Dehydrogenase, NADP-specific |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
No |
Yes
|
| GLIOMA SUSCEPTIBILITY 1; GLM1 GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED |
137800 |
IDH1 |
isocitrate dehydrogenase 1 (NADP+), soluble |
3417 |
147700 |
IDP3 |
YNL009W |
Isocitrate Dehydrogenase, NADP-dependent |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
No |
Yes
|
| D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2 |
613657 |
IDH2 |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
3418 |
147650 |
IDP2 |
YLR174W |
Isocitrate Dehydrogenase, NADP-specific |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|InParanoid |
5 |
9 |
Yes |
No
|
| D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2 |
613657 |
IDH2 |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
3418 |
147650 |
IDP3 |
YNL009W |
Isocitrate Dehydrogenase, NADP-dependent |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|InParanoid |
5 |
9 |
Yes |
No
|
| RETINITIS PIGMENTOSA 46; RP46 |
612572 |
IDH3B |
isocitrate dehydrogenase 3 (NAD+) beta |
3420 |
604526 |
IDH1 |
YNL037C |
Isocitrate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 45; MRX45 |
300498 |
ZNF81 |
zinc finger protein 81 |
347344 |
314998 |
ZAP1 |
YJL056C |
Zinc-responsive Activator Protein |
DiOPT |
Hieranoid|InParanoid|SonicParanoid |
3 |
9 |
Yes |
Yes
|
| CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA |
300472 |
IGBP1 |
immunoglobulin (CD79A) binding protein 1 |
3476 |
300139 |
TAP42 |
YMR028W |
Two A phosphatase Associated Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA |
610031 |
TUBB2B |
tubulin, beta 2B class IIb |
347733 |
612850 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S |
616155 |
IGHMBP2 |
immunoglobulin mu binding protein 2 |
3508 |
600502 |
HCS1 |
YKL017C |
dna HeliCaSe |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 |
604320 |
IGHMBP2 |
immunoglobulin mu binding protein 2 |
3508 |
600502 |
HCS1 |
YKL017C |
dna HeliCaSe |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD |
614723 |
APRT |
adenine phosphoribosyltransferase |
353 |
102600 |
APT1 |
YML022W |
Adenine PhosphoribosylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD |
614723 |
APRT |
adenine phosphoribosyltransferase |
353 |
102600 |
APT2 |
YDR441C |
Adenine PhosphoribosylTransferase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
No |
Yes
|
| BLOOD GROUP--COLTON; CO |
110450 |
AQP1 |
aquaporin 1 (Colton blood group) |
358 |
107776 |
AQY1 |
YPR192W |
AQuaporin from Yeast |
DiOPT |
OrthoInspector|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL |
125800 |
AQP2 |
aquaporin 2 (collecting duct) |
359 |
107777 |
AQY1 |
YPR192W |
AQuaporin from Yeast |
DiOPT |
OrthoInspector|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| GIL BLOOD GROUP |
607457 |
AQP3 |
aquaporin 3 (Gill blood group) |
360 |
600170 |
AQY3 |
YFL054C |
AQuaporin from Yeast |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| GIL BLOOD GROUP |
607457 |
AQP3 |
aquaporin 3 (Gill blood group) |
360 |
600170 |
FPS1 |
YLL043W |
FdP1 Suppressor |
DiOPT |
Ensembl Compara|PhylomeDB|PANTHER |
3 |
9 |
No |
Yes
|
| LEBER CONGENITAL AMAUROSIS 11; LCA11 |
613837 |
IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
3614 |
146690 |
IMD2 |
YHR216W |
IMP Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEBER CONGENITAL AMAUROSIS 11; LCA11 |
613837 |
IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
3614 |
146690 |
IMD3 |
YLR432W |
IMP Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEBER CONGENITAL AMAUROSIS 11; LCA11 |
613837 |
IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
3614 |
146690 |
IMD4 |
YML056C |
IMP Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 10; RP10 |
180105 |
IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
3614 |
146690 |
IMD2 |
YHR216W |
IMP Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 10; RP10 |
180105 |
IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
3614 |
146690 |
IMD3 |
YLR432W |
IMP Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 10; RP10 |
180105 |
IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
3614 |
146690 |
IMD4 |
YML056C |
IMP Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB |
600231 |
AQP5 |
aquaporin 5 |
362 |
600442 |
AQY1 |
YPR192W |
AQuaporin from Yeast |
DiOPT |
SonicParanoid|OrthoInspector|PhylomeDB|InParanoid |
4 |
9 |
Yes |
No
|
| SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC |
275355 |
ING1 |
inhibitor of growth family, member 1 |
3621 |
601566 |
PHO23 |
YNL097C |
PHOsphate metabolism |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
Yes
|
| GLYCEROL QUANTITATIVE TRAIT LOCUS; GLYCQTL |
614411 |
AQP7 |
aquaporin 7 |
364 |
602974 |
AQY3 |
YFL054C |
AQuaporin from Yeast |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2 |
614473 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
368 |
603234 |
BPT1 |
YLL015W |
Bile Pigment Transporter |
DiOPT |
Ensembl Compara|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2 |
614473 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
368 |
603234 |
YCF1 |
YDR135C |
Yeast Cadmium Factor |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED |
177850 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
368 |
603234 |
BPT1 |
YLL015W |
Bile Pigment Transporter |
DiOPT |
Ensembl Compara|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED |
177850 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
368 |
603234 |
YCF1 |
YDR135C |
Yeast Cadmium Factor |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| PSEUDOXANTHOMA ELASTICUM; PXE |
264800 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
368 |
603234 |
BPT1 |
YLL015W |
Bile Pigment Transporter |
DiOPT |
Ensembl Compara|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| PSEUDOXANTHOMA ELASTICUM; PXE |
264800 |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
368 |
603234 |
YCF1 |
YDR135C |
Yeast Cadmium Factor |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw; CDG1W |
615596 |
STT3A |
STT3A, subunit of the oligosaccharyltransferase complex (catalytic) |
3703 |
601134 |
STT3 |
YGL022W |
STaurosporine and Temperature sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| INOSINE TRIPHOSPHATASE DEFICIENCY |
613850 |
ITPA |
inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
3704 |
147520 |
HAM1 |
YJR069C |
6-n-HydroxylAMinopurine sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB |
613641 |
KARS |
lysyl-tRNA synthetase |
3735 |
601421 |
KRS1 |
YDR037W |
Lysyl (K) tRNA Synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89 |
613916 |
KARS |
lysyl-tRNA synthetase |
3735 |
601421 |
KRS1 |
YDR037W |
Lysyl (K) tRNA Synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61 |
613865 |
SLC26A5 |
solute carrier family 26 (anion exchanger), member 5 |
375611 |
604943 |
|
YPR003C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
No
|
| PULMONARY HYPERTENSION, PRIMARY, 4; PPH4 |
615344 |
KCNK3 |
potassium channel, two pore domain subfamily K, member 3 |
3777 |
603220 |
TOK1 |
YJL093C |
|
DiOPT |
SonicParanoid|Ensembl Compara|PANTHER |
3 |
9 |
Yes |
No
|
| SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 |
604187 |
KIF5A |
kinesin family member 5A |
3798 |
602821 |
SMY1 |
YKL079W |
Suppressor of MYo2-66 |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| ALPHA-METHYLACETOACETIC ACIDURIA |
203750 |
ACAT1 |
acetyl-CoA acetyltransferase 1 |
38 |
607809 |
ERG10 |
YPL028W |
ERGosterol biosynthesis |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
Yes
|
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 |
615282 |
KIF5C |
kinesin family member 5C |
3800 |
604593 |
SMY1 |
YKL079W |
Suppressor of MYo2-66 |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| ARGININEMIA |
207800 |
ARG1 |
arginase 1 |
383 |
608313 |
CAR1 |
YPL111W |
Catabolism of ARginine |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR |
152950 |
KIF11 |
kinesin family member 11 |
3832 |
148760 |
CIN8 |
YEL061C |
Chromosome INstability |
DiOPT |
Ensembl Compara|PANTHER|OrthoFinder |
3 |
9 |
No |
Yes
|
| MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR |
152950 |
KIF11 |
kinesin family member 11 |
3832 |
148760 |
KIP1 |
YBL063W |
KInesin related Protein |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG |
612018 |
SLC16A12 |
solute carrier family 16, member 12 |
387700 |
611910 |
ESBP6 |
YNL125C |
|
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG |
612018 |
SLC16A12 |
solute carrier family 16, member 12 |
387700 |
611910 |
MCH4 |
YOL119C |
MonoCarboxylate transporter Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
No
|
| CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG |
612018 |
SLC16A12 |
solute carrier family 16, member 12 |
387700 |
611910 |
MCH5 |
YOR306C |
MonoCarboxylate transporter Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
No
|
| CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 |
616501 |
COA6 |
cytochrome c oxidase assembly factor 6 |
388753 |
614772 |
COA6 |
YMR244C-A |
Cytochrome Oxidase Assembly |
DiOPT |
Hieranoid|SonicParanoid|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2; MMDS2 |
614299 |
BOLA3 |
bolA family member 3 |
388962 |
613183 |
BOL3 |
YAL046C |
BolA-like protein |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ASPLENIA, ISOLATED CONGENITAL; ICAS |
271400 |
RPSA |
ribosomal protein SA |
3921 |
150370 |
RPS0A |
YGR214W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ASPLENIA, ISOLATED CONGENITAL; ICAS |
271400 |
RPSA |
ribosomal protein SA |
3921 |
150370 |
RPS0B |
YLR048W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GREENBERG DYSPLASIA; GRBGD |
215140 |
LBR |
lamin B receptor |
3930 |
600024 |
ERG24 |
YNL280C |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PELGER-HUET ANOMALY; PHA |
169400 |
LBR |
lamin B receptor |
3930 |
600024 |
ERG24 |
YNL280C |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| REYNOLDS SYNDROME |
613471 |
LBR |
lamin B receptor |
3930 |
600024 |
ERG24 |
YNL280C |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| FISH-EYE DISEASE; FED |
136120 |
LCAT |
lecithin-cholesterol acyltransferase |
3931 |
606967 |
LRO1 |
YNR008W |
Lecithin cholesterol acyl transferase Related Open reading frame |
DiOPT |
Hieranoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
Yes
|
| LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY |
245900 |
LCAT |
lecithin-cholesterol acyltransferase |
3931 |
606967 |
LRO1 |
YNR008W |
Lecithin cholesterol acyl transferase Related Open reading frame |
DiOPT |
Hieranoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
Yes
|
| NEPHROTIC SYNDROME, TYPE 8; NPHS8 |
615244 |
ARHGDIA |
Rho GDP dissociation inhibitor (GDI) alpha |
396 |
601925 |
RDI1 |
YDL135C |
Rho GDP Dissociation Inhibitor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LIG4 SYNDROME |
606593 |
LIG4 |
ligase IV, DNA, ATP-dependent |
3981 |
601837 |
DNL4 |
YOR005C |
DNA Ligase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYELOMA, MULTIPLE AMYLOIDOSIS, SYSTEMIC, INCLUDED; AL, INCLUDED |
254500 |
LIG4 |
ligase IV, DNA, ATP-dependent |
3981 |
601837 |
DNL4 |
YOR005C |
DNA Ligase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LYSOSOMAL ACID LIPASE DEFICIENCY |
278000 |
LIPA |
lipase A, lysosomal acid, cholesterol esterase |
3988 |
613497 |
TGL1 |
YKL140W |
TriGlyceride Lipase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| LYSOSOMAL ACID LIPASE DEFICIENCY |
278000 |
LIPA |
lipase A, lysosomal acid, cholesterol esterase |
3988 |
613497 |
YEH1 |
YLL012W |
Yeast steryl Ester Hydrolase |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1 |
227300 |
LMAN1 |
lectin, mannose-binding, 1 |
3998 |
601567 |
EMP46 |
YLR080W |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1 |
227300 |
LMAN1 |
lectin, mannose-binding, 1 |
3998 |
601567 |
EMP47 |
YFL048C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2 |
615911 |
CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
400916 |
615903 |
MIX17 |
YMR002W |
Mitochondrial Intermembrane space CX(n)C motif protein |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT; IMMD |
616209 |
CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
400916 |
615903 |
MIX17 |
YMR002W |
Mitochondrial Intermembrane space CX(n)C motif protein |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ |
615048 |
CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
400916 |
615903 |
MIX17 |
YMR002W |
Mitochondrial Intermembrane space CX(n)C motif protein |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 |
616395 |
GTF2H5 |
general transcription factor IIH, polypeptide 5 |
404672 |
608780 |
TFB5 |
YDR079C-A |
|
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CATARACT 44; CTRCT44 |
616509 |
LSS |
lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) |
4047 |
600909 |
ERG7 |
YHR072W |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 62; RP62 |
614181 |
MAK |
male germ cell-associated kinase |
4117 |
154235 |
IME2 |
YJL106W |
Inducer of MEiosis |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U |
616280 |
MARS |
methionyl-tRNA synthetase |
4141 |
156560 |
MES1 |
YGR264C |
MEthionyl-tRNA Synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| INTERSTITIAL LUNG AND LIVER DISEASE; ILLD |
615486 |
MARS |
methionyl-tRNA synthetase |
4141 |
156560 |
MES1 |
YGR264C |
MEthionyl-tRNA Synthetase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
250850 |
MAT1A |
methionine adenosyltransferase I, alpha |
4143 |
610550 |
SAM1 |
YLR180W |
S-AdenosylMethionine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
250850 |
MAT1A |
methionine adenosyltransferase I, alpha |
4143 |
610550 |
SAM2 |
YDR502C |
S-AdenosylMethionine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT; NKGCD |
609981 |
MCM4 |
minichromosome maintenance complex component 4 |
4173 |
602638 |
MCM4 |
YPR019W |
MiniChromosome Maintenance |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LACTOSE INTOLERANCE, ADULT TYPE |
223100 |
MCM6 |
minichromosome maintenance complex component 6 |
4175 |
601806 |
MCM6 |
YGL201C |
MiniChromosome Maintenance |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 |
608320 |
MEF2A |
myocyte enhancer factor 2A |
4205 |
600660 |
RLM1 |
YPL089C |
Resistance to Lethality of MKK1P386 overexpression |
DiOPT |
OrthoInspector|OrthoFinder|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 |
608320 |
MEF2A |
myocyte enhancer factor 2A |
4205 |
600660 |
SMP1 |
YBR182C |
Second MEF2-like Protein |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
No |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 |
613443 |
MEF2C |
myocyte enhancer factor 2C |
4208 |
600662 |
RLM1 |
YPL089C |
Resistance to Lethality of MKK1P386 overexpression |
DiOPT |
OrthoInspector|OrthoFinder|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 |
613443 |
MEF2C |
myocyte enhancer factor 2C |
4208 |
600662 |
SMP1 |
YBR182C |
Second MEF2-like Protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
No |
Yes
|
| CATARACT 15, MULTIPLE TYPES; CTRCT15 |
615274 |
MIP |
major intrinsic protein of lens fiber |
4284 |
154050 |
AQY1 |
YPR192W |
AQuaporin from Yeast |
DiOPT |
OrthoInspector|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| CATARACT 15, MULTIPLE TYPES; CTRCT15 |
615274 |
MIP |
major intrinsic protein of lens fiber |
4284 |
154050 |
|
YLL053C |
|
DiOPT |
SonicParanoid|OrthoInspector|PhylomeDB|Ensembl Compara |
4 |
9 |
No |
Yes
|
| ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS |
103470 |
MITF |
microphthalmia-associated transcription factor |
4286 |
156845 |
RTG3 |
YBL103C |
ReTroGrade regulation |
DiOPT |
Ensembl Compara|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 |
614456 |
MITF |
microphthalmia-associated transcription factor |
4286 |
156845 |
RTG3 |
YBL103C |
ReTroGrade regulation |
DiOPT |
Ensembl Compara|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| TIETZ SYNDROME |
103500 |
MITF |
microphthalmia-associated transcription factor |
4286 |
156845 |
RTG3 |
YBL103C |
ReTroGrade regulation |
DiOPT |
Ensembl Compara|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| WAARDENBURG SYNDROME, TYPE 2A; WS2A |
193510 |
MITF |
microphthalmia-associated transcription factor |
4286 |
156845 |
RTG3 |
YBL103C |
ReTroGrade regulation |
DiOPT |
Ensembl Compara|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 |
609310 |
MLH1 |
mutL homolog 1 |
4292 |
120436 |
MLH1 |
YMR167W |
MutL Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MISMATCH REPAIR CANCER SYNDROME; MMRCS |
276300 |
MLH1 |
mutL homolog 1 |
4292 |
120436 |
MLH1 |
YMR167W |
MutL Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUIR-TORRE SYNDROME; MRTES |
158320 |
MLH1 |
mutL homolog 1 |
4292 |
120436 |
MLH1 |
YMR167W |
MutL Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ARGININOSUCCINIC ACIDURIA |
207900 |
ASL |
argininosuccinate lyase |
435 |
608310 |
ARG4 |
YHR018C |
ARGinine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B |
602579 |
MPI |
mannose phosphate isomerase |
4351 |
154550 |
PMI40 |
YER003C |
PhosphoMannose Isomerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6 |
256810 |
MPV17 |
MpV17 mitochondrial inner membrane protein |
4358 |
137960 |
SYM1 |
YLR251W |
Stress-inducible Yeast Mpv17 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1 |
604391 |
MRE11A |
MRE11 homolog A, double strand break repair nuclease |
4361 |
600814 |
MRE11 |
YMR224C |
Meiotic REcombination |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD |
615574 |
ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
440 |
108370 |
ASN1 |
YPR145W |
ASparagiNe requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD |
615574 |
ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
440 |
108370 |
ASN2 |
YGR124W |
ASparagiNe requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P |
613661 |
ALG11 |
ALG11, alpha-1,2-mannosyltransferase |
440138 |
613666 |
ALG11 |
YNL048W |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 |
234810 |
EIF2AK4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
440275 |
609280 |
GCN2 |
YDR283C |
General Control Nonderepressible |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| LYNCH SYNDROME I |
120435 |
MSH2 |
mutS homolog 2 |
4436 |
609309 |
MSH2 |
YOL090W |
MutS Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MISMATCH REPAIR CANCER SYNDROME; MMRCS |
276300 |
MSH2 |
mutS homolog 2 |
4436 |
609309 |
MSH2 |
YOL090W |
MutS Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MUIR-TORRE SYNDROME; MRTES |
158320 |
MSH2 |
mutS homolog 2 |
4436 |
609309 |
MSH2 |
YOL090W |
MutS Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ENDOMETRIAL CANCER |
608089 |
MSH3 |
mutS homolog 3 |
4437 |
600887 |
MSH3 |
YCR092C |
MutS Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CITRULLINEMIA, CLASSIC |
215700 |
ASS1 |
argininosuccinate synthase 1 |
445 |
603470 |
ARG1 |
YOL058W |
ARGinine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH |
112250 |
MTAP |
methylthioadenosine phosphorylase |
4507 |
156540 |
MEU1 |
YLR017W |
Multicopy Enhancer of UAS2 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS |
601634 |
MTHFD1 |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase |
4522 |
172460 |
ADE3 |
YGR204W |
ADEnine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS |
601634 |
MTHFD1 |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase |
4522 |
172460 |
MIS1 |
YBR084W |
MItochondrial C1-tetrahydrofolate Synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
8 |
9 |
No |
Yes
|
| HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY |
236250 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET12 |
YPL023C |
METhionine requiring |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
No |
Yes
|
| HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY |
236250 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET13 |
YGL125W |
METhionine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS |
601634 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET12 |
YPL023C |
METhionine requiring |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
No |
Yes
|
| NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS |
601634 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET13 |
YGL125W |
METhionine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SCHIZOPHRENIA; SCZD |
181500 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET12 |
YPL023C |
METhionine requiring |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
No |
Yes
|
| SCHIZOPHRENIA; SCZD |
181500 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET13 |
YGL125W |
METhionine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 |
188050 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET12 |
YPL023C |
METhionine requiring |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
No |
Yes
|
| THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 |
188050 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
607093 |
MET13 |
YGL125W |
METhionine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX |
310400 |
MTM1 |
myotubularin 1 |
4534 |
300415 |
YMR1 |
YJR110W |
Yeast Myotubularin Related |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG |
250940 |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
4548 |
156570 |
MHT1 |
YLL062C |
S-Methylmethionine-Homocysteine methylTransferase |
DiOPT |
SonicParanoid|OrthoInspector |
2 |
9 |
Yes |
Yes
|
| NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS |
601634 |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
4548 |
156570 |
MHT1 |
YLL062C |
S-Methylmethionine-Homocysteine methylTransferase |
DiOPT |
SonicParanoid|OrthoInspector |
2 |
9 |
Yes |
Yes
|
| HYPER-IgD SYNDROME; HIDS |
260920 |
MVK |
mevalonate kinase |
4598 |
251170 |
ERG12 |
YMR208W |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MEVALONIC ACIDURIA; MEVA |
610377 |
MVK |
mevalonate kinase |
4598 |
251170 |
ERG12 |
YMR208W |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| POROKERATOSIS 3, MULTIPLE TYPES; POROK3 |
175900 |
MVK |
mevalonate kinase |
4598 |
251170 |
ERG12 |
YMR208W |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA; MYPOP |
605637 |
MYH2 |
myosin, heavy chain 2, skeletal muscle, adult |
4620 |
160740 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A |
193700 |
MYH3 |
myosin, heavy chain 3, skeletal muscle, embryonic |
4621 |
160720 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B |
601680 |
MYH3 |
myosin, heavy chain 3, skeletal muscle, embryonic |
4621 |
160720 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8 |
178110 |
MYH3 |
myosin, heavy chain 3, skeletal muscle, embryonic |
4621 |
160720 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| ATRIAL SEPTAL DEFECT 3; ASD3 |
614089 |
MYH6 |
myosin, heavy chain 6, cardiac muscle, alpha |
4624 |
160710 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| CARDIOMYOPATHY, DILATED, 1EE; CMD1EE |
613252 |
MYH6 |
myosin, heavy chain 6, cardiac muscle, alpha |
4624 |
160710 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14 |
613251 |
MYH6 |
myosin, heavy chain 6, cardiac muscle, alpha |
4624 |
160710 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3 |
614090 |
MYH6 |
myosin, heavy chain 6, cardiac muscle, alpha |
4624 |
160710 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| CARDIOMYOPATHY, DILATED, 1S; CMD1S LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED; LVNC5, INCLUDED |
613426 |
MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
4625 |
160760 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 |
192600 |
MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
4625 |
160760 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| MYOPATHY, DISTAL, 1; MPD1 |
160500 |
MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
4625 |
160760 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA |
608358 |
MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
4625 |
160760 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB |
255160 |
MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
4625 |
160760 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM |
181430 |
MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
4625 |
160760 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7 |
158300 |
MYH8 |
myosin, heavy chain 8, skeletal muscle, perinatal |
4626 |
160741 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| CARNEY COMPLEX VARIANT |
608837 |
MYH8 |
myosin, heavy chain 8, skeletal muscle, perinatal |
4626 |
160741 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED |
603622 |
MYH9 |
myosin, heavy chain 9, non-muscle |
4627 |
160775 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPSTEIN SYNDROME |
153650 |
MYH9 |
myosin, heavy chain 9, non-muscle |
4627 |
160775 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| FECHTNER SYNDROME; FTNS |
153640 |
MYH9 |
myosin, heavy chain 9, non-muscle |
4627 |
160775 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS |
600208 |
MYH9 |
myosin, heavy chain 9, non-muscle |
4627 |
160775 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MAY-HEGGLIN ANOMALY; MHA |
155100 |
MYH9 |
myosin, heavy chain 9, non-muscle |
4627 |
160775 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SEBASTIAN SYNDROME; SBS |
605249 |
MYH9 |
myosin, heavy chain 9, non-muscle |
4627 |
160775 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 |
132900 |
MYH11 |
myosin, heavy chain 11, smooth muscle |
4629 |
160745 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 |
608751 |
MYL3 |
myosin, light chain 3, alkali; ventricular, skeletal, slow |
4634 |
160790 |
MLC1 |
YGL106W |
Myosin Light Chain |
DiOPT |
OMA|OrthoFinder|PANTHER |
3 |
9 |
Yes |
No
|
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6 |
614131 |
MYO1E |
myosin IE |
4643 |
601479 |
MYO3 |
YKL129C |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6 |
614131 |
MYO1E |
myosin IE |
4643 |
601479 |
MYO5 |
YMR109W |
MYOsin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| GRISCELLI SYNDROME, TYPE 1; GS1 |
214450 |
MYO5A |
myosin VA |
4644 |
160777 |
MYO2 |
YOR326W |
MYOsin |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| GRISCELLI SYNDROME, TYPE 1; GS1 |
214450 |
MYO5A |
myosin VA |
4644 |
160777 |
MYO4 |
YAL029C |
MYOsin |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2 |
251850 |
MYO5B |
myosin VB |
4645 |
606540 |
MYO4 |
YAL029C |
MYOsin |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III |
613960 |
NCF4 |
neutrophil cytosolic factor 4, 40kDa |
4689 |
601488 |
BEM1 |
YBR200W |
Bud EMergence |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PRADER-WILLI SYNDROME; PWS |
176270 |
NDN |
necdin, melanoma antigen (MAGE) family member |
4692 |
602117 |
NSE3 |
YDR288W |
Non SMC Element |
DiOPT |
Hieranoid|InParanoid|PANTHER |
3 |
9 |
Yes |
No
|
| AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY |
608688 |
ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
471 |
601731 |
ADE16 |
YLR028C |
ADEnine |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY |
608688 |
ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
471 |
601731 |
ADE17 |
YMR120C |
ADEnine |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ATAXIA-TELANGIECTASIA; AT |
208900 |
ATM |
ATM serine/threonine kinase |
472 |
607585 |
TEL1 |
YBL088C |
TELomere maintenance |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER |
5 |
9 |
Yes |
Yes
|
| BREAST CANCER |
114480 |
ATM |
ATM serine/threonine kinase |
472 |
607585 |
TEL1 |
YBL088C |
TELomere maintenance |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER |
5 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 67; RP67 |
615565 |
NEK2 |
NIMA-related kinase 2 |
4751 |
604043 |
KIN3 |
YAR018C |
protein KINase |
DiOPT |
OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML |
607785 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA1 |
YBR140C |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML |
607785 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA2 |
YOL081W |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| NEUROFIBROMATOSIS, FAMILIAL SPINAL |
162210 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA1 |
YBR140C |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| NEUROFIBROMATOSIS, FAMILIAL SPINAL |
162210 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA2 |
YOL081W |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS |
601321 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA1 |
YBR140C |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS |
601321 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA2 |
YOL081W |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| NEUROFIBROMATOSIS, TYPE I; NF1 |
162200 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA1 |
YBR140C |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| NEUROFIBROMATOSIS, TYPE I; NF1 |
162200 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA2 |
YOL081W |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| WATSON SYNDROME; WTSN |
193520 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA1 |
YBR140C |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| WATSON SYNDROME; WTSN |
193520 |
NF1 |
neurofibromin 1 |
4763 |
613113 |
IRA2 |
YOL081W |
Inhibitory Regulator of the RAS-cAMP pathway |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| NEUROBLASTOMA, SUSCEPTIBILITY TO NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NBLST1, INCLUDED |
256700 |
NME1 |
NME/NM23 nucleoside diphosphate kinase 1 |
4830 |
156490 |
YNK1 |
YKL067W |
Yeast Nucleoside diphosphate Kinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY |
613179 |
PNP |
purine nucleoside phosphorylase |
4860 |
164050 |
PNP1 |
YLR209C |
purine nucleoside phosphorylase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NIEMANN-PICK DISEASE, TYPE C1; NPC1 |
257220 |
NPC1 |
Niemann-Pick disease, type C1 |
4864 |
607623 |
NCR1 |
YPL006W |
Niemann-pick type C Related |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 |
206100 |
SLC11A2 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 |
4891 |
600523 |
SMF1 |
YOL122C |
Suppressor of Mitochondria import Function |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 |
206100 |
SLC11A2 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 |
4891 |
600523 |
SMF2 |
YHR050W |
Suppressor of Mitochondria import Function |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 |
206100 |
SLC11A2 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 |
4891 |
600523 |
SMF3 |
YLR034C |
|
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 |
601386 |
ATP2B2 |
ATPase, Ca++ transporting, plasma membrane 2 |
491 |
108733 |
PMC1 |
YGL006W |
Plasma Membrane Calcium |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 |
616415 |
NTHL1 |
nth-like DNA glycosylase 1 |
4913 |
602656 |
NTG1 |
YAL015C |
eNdonuclease Three-like Glycosylase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 |
616415 |
NTHL1 |
nth-like DNA glycosylase 1 |
4913 |
602656 |
NTG2 |
YOL043C |
eNdonuclease Three-like Glycosylase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1 |
302500 |
ATP2B3 |
ATPase, Ca++ transporting, plasma membrane 3 |
492 |
300014 |
PMC1 |
YGL006W |
Plasma Membrane Calcium |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3; CEMCOX3 |
616500 |
COA5 |
cytochrome c oxidase assembly factor 5 |
493753 |
613920 |
PET191 |
YJR034W |
PETite colonies |
DiOPT |
Hieranoid|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
Yes |
Yes
|
| GYRATE ATROPHY OF CHOROID AND RETINA; GACR |
258870 |
OAT |
ornithine aminotransferase |
4942 |
613349 |
CAR2 |
YLR438W |
Catabolism of ARginine |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
ODC1 |
ornithine decarboxylase 1 |
4953 |
165640 |
SPE1 |
YKL184W |
SPErmidine auxotroph |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY |
203740 |
OGDH |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
4967 |
613022 |
KGD1 |
YIL125W |
alpha-KetoGlutarate Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RENAL CELL CARCINOMA, NONPAPILLARY; RCC |
144700 |
OGG1 |
8-oxoguanine DNA glycosylase |
4968 |
601982 |
OGG1 |
YML060W |
8-OxoGuanine Glycosylase/lyase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO |
606657 |
OPA1 |
optic atrophy 1 (autosomal dominant) |
4976 |
605290 |
MGM1 |
YOR211C |
Mitochondrial Genome Maintenance |
DiOPT |
Hieranoid|Ensembl Compara|PANTHER |
3 |
9 |
Yes |
Yes
|
| OPTIC ATROPHY 1; OPA1 |
165500 |
OPA1 |
optic atrophy 1 (autosomal dominant) |
4976 |
605290 |
MGM1 |
YOR211C |
Mitochondrial Genome Maintenance |
DiOPT |
Hieranoid|Ensembl Compara|PANTHER |
3 |
9 |
Yes |
Yes
|
| OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY |
125250 |
OPA1 |
optic atrophy 1 (autosomal dominant) |
4976 |
605290 |
MGM1 |
YOR211C |
Mitochondrial Genome Maintenance |
DiOPT |
Hieranoid|Ensembl Compara|PANTHER |
3 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22 |
616045 |
ATP5A1 |
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle |
498 |
164360 |
ATP1 |
YBL099W |
ATP synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; MC5DN4 |
615228 |
ATP5A1 |
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle |
498 |
164360 |
ATP1 |
YBL099W |
ATP synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MEIER-GORLIN SYNDROME 1; MGORS1 |
224690 |
ORC1 |
origin recognition complex, subunit 1 |
4998 |
601902 |
ORC1 |
YML065W |
Origin Recognition Complex |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| MEIER-GORLIN SYNDROME 1; MGORS1 |
224690 |
ORC1 |
origin recognition complex, subunit 1 |
4998 |
601902 |
SIR3 |
YLR442C |
Silent Information Regulator |
DiOPT |
SonicParanoid|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD |
614559 |
ACO2 |
aconitase 2, mitochondrial |
50 |
100850 |
ACO1 |
YLR304C |
ACOnitase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| OPTIC ATROPHY 8; OPA8 |
616289 |
ACO2 |
aconitase 2, mitochondrial |
50 |
100850 |
ACO1 |
YLR304C |
ACOnitase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MEIER-GORLIN SYNDROME 2; MGORS2 |
613800 |
ORC4 |
origin recognition complex, subunit 4 |
5000 |
603056 |
ORC4 |
YPR162C |
Origin Recognition Complex |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO |
311250 |
OTC |
ornithine carbamoyltransferase |
5009 |
300461 |
ARG3 |
YJL088W |
ARGinine requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COLE-CARPENTER SYNDROME 1; CLCRP1 |
112240 |
P4HB |
prolyl 4-hydroxylase, beta polypeptide |
5034 |
176790 |
EUG1 |
YDR518W |
ER protein Unnecessary for Growth |
DiOPT |
OrthoInspector|OMA|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| COLE-CARPENTER SYNDROME 1; CLCRP1 |
112240 |
P4HB |
prolyl 4-hydroxylase, beta polypeptide |
5034 |
176790 |
PDI1 |
YCL043C |
Protein Disulfide Isomerase |
DiOPT |
OrthoInspector|OMA|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| LISSENCEPHALY 1; LIS1 |
607432 |
PAFAH1B1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
5048 |
601545 |
PAC1 |
YOR269W |
Perish in the Absence of Cin8p |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A |
612075 |
RRM2B |
ribonucleotide reductase M2 B (TP53 inducible) |
50484 |
604712 |
RNR2 |
YJL026W |
RiboNucleotide Reductase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A |
612075 |
RRM2B |
ribonucleotide reductase M2 B (TP53 inducible) |
50484 |
604712 |
RNR4 |
YGR180C |
RiboNucleotide Reductase |
DiOPT |
Ensembl Compara|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 |
613077 |
RRM2B |
ribonucleotide reductase M2 B (TP53 inducible) |
50484 |
604712 |
RNR2 |
YJL026W |
RiboNucleotide Reductase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 |
613077 |
RRM2B |
ribonucleotide reductase M2 B (TP53 inducible) |
50484 |
604712 |
RNR4 |
YGR180C |
RiboNucleotide Reductase |
DiOPT |
Ensembl Compara|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR |
602722 |
ATP6V0A4 |
ATPase, H+ transporting, lysosomal V0 subunit a4 |
50617 |
605239 |
STV1 |
YMR054W |
Similar To VPH1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR |
602722 |
ATP6V0A4 |
ATPase, H+ transporting, lysosomal V0 subunit a4 |
50617 |
605239 |
VPH1 |
YOR270C |
Vacuolar pH |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 30; MRX30 |
300558 |
PAK3 |
p21 protein (Cdc42/Rac)-activated kinase 3 |
5063 |
300142 |
SKM1 |
YOL113W |
STE20/PAK homologous Kinase related to Morphogenesis |
DiOPT |
Hieranoid|OMA|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| MENTAL RETARDATION, X-LINKED 30; MRX30 |
300558 |
PAK3 |
p21 protein (Cdc42/Rac)-activated kinase 3 |
5063 |
300142 |
STE20 |
YHL007C |
STErile |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CK SYNDROME |
300831 |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
50814 |
300275 |
ERG26 |
YGL001C |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS |
308050 |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
50814 |
300275 |
ERG26 |
YGL001C |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PYRUVATE CARBOXYLASE DEFICIENCY |
266150 |
PC |
pyruvate carboxylase |
5091 |
608786 |
PYC1 |
YGL062W |
PYruvate Carboxylase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PYRUVATE CARBOXYLASE DEFICIENCY |
266150 |
PC |
pyruvate carboxylase |
5091 |
608786 |
PYC2 |
YBR218C |
PYruvate Carboxylase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D |
264070 |
PCBD1 |
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha |
5092 |
126090 |
MCO14 |
YHL018W |
Mitochondrial Class One protein of 14 kDa |
DiOPT |
PANTHER|PhylomeDB|InParanoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
264470 |
ACOX1 |
acyl-CoA oxidase 1, palmitoyl |
51 |
609751 |
POX1 |
YGL205W |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|InParanoid |
5 |
9 |
Yes |
Yes
|
| COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 |
614650 |
COQ6 |
coenzyme Q6 monooxygenase |
51004 |
614647 |
COQ6 |
YGR255C |
COenzyme Q |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B |
614678 |
EXOSC3 |
exosome component 3 |
51010 |
606489 |
RRP40 |
YOL142W |
Ribosomal RNA Processing |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 |
610498 |
MRPS16 |
mitochondrial ribosomal protein S16 |
51021 |
609204 |
MRPS16 |
YPL013C |
Mitochondrial Ribosomal Protein, Small subunit |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM |
613320 |
PAM16 |
presequence translocase-associated motor 16 homolog (S. cerevisiae) |
51025 |
614336 |
PAM16 |
YJL104W |
Presequence translocase-Associated Motor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2 |
613561 |
YARS2 |
tyrosyl-tRNA synthetase 2, mitochondrial |
51067 |
610957 |
MSY1 |
YPL097W |
Mitochondrial aminoacyl-tRNA Synthetase, tyrosine (Y) |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| TREACHER COLLINS SYNDROME 2; TCS2 |
613717 |
POLR1D |
polymerase (RNA) I polypeptide D |
51082 |
613715 |
RPC19 |
YNL113W |
RNA Polymerase C |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD |
616084 |
TRNT1 |
tRNA nucleotidyl transferase, CCA-adding, 1 |
51095 |
612907 |
CCA1 |
YER168C |
tRNA CCA-pyrophosphorylase |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| CHANARIN-DORFMAN SYNDROME; CDS |
275630 |
ABHD5 |
abhydrolase domain containing 5 |
51099 |
604780 |
CLD1 |
YGR110W |
CardioLipin-specific Deacylase |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| CHANARIN-DORFMAN SYNDROME; CDS |
275630 |
ABHD5 |
abhydrolase domain containing 5 |
51099 |
604780 |
ECM18 |
YDR125C |
ExtraCellular Mutant |
DiOPT |
OrthoInspector|OMA|OrthoFinder|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| CHANARIN-DORFMAN SYNDROME; CDS |
275630 |
ABHD5 |
abhydrolase domain containing 5 |
51099 |
604780 |
ICT1 |
YLR099C |
Increased Copper Tolerance |
DiOPT |
OrthoInspector|OMA|OrthoFinder|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS |
616108 |
RDH11 |
retinol dehydrogenase 11 (all-trans/9-cis/11-cis) |
51109 |
607849 |
ENV9 |
YOR246C |
late ENdosome and Vacuole interface function |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|InParanoid |
5 |
9 |
Yes |
No
|
| ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2 |
615919 |
PCNA |
proliferating cell nuclear antigen |
5111 |
176740 |
POL30 |
YBR088C |
POLymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR |
300799 |
ZDHHC9 |
zinc finger, DHHC-type containing 9 |
51114 |
300646 |
ERF2 |
YLR246W |
Effect on Ras Function |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7 |
616276 |
COQ4 |
coenzyme Q4 |
51117 |
612898 |
COQ4 |
YDR204W |
COenzyme Q |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| APLASTIC ANEMIA APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED |
609135 |
SBDS |
Shwachman-Bodian-Diamond syndrome |
51119 |
607444 |
SDO1 |
YLR022C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SHWACHMAN-DIAMOND SYNDROME; SDS |
260400 |
SBDS |
Shwachman-Bodian-Diamond syndrome |
51119 |
607444 |
SDO1 |
YLR022C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS |
614231 |
IER3IP1 |
immediate early response 3 interacting protein 1 |
51124 |
609382 |
YOS1 |
YER074W-A |
Yip One Suppressor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHYLOMICRON RETENTION DISEASE; CMRD |
246700 |
SAR1B |
secretion associated, Ras related GTPase 1B |
51128 |
607690 |
SAR1 |
YPL218W |
Secretion-Associated, Ras-related |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 |
614961 |
CHMP1A |
charged multivesicular body protein 1A |
5119 |
164010 |
DID2 |
YKR035W-A |
Doa4-Independent Degradation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| MITOCHONDRIAL COMPLEX IV DEFICIENCY |
220110 |
TACO1 |
translational activator of mitochondrially encoded cytochrome c oxidase I |
51204 |
612958 |
DPC29 |
YGR021W |
Delta-Psi dependent mitochondrial import and Cleavage protein of ~29 kDa |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE |
205950 |
GLRX5 |
glutaredoxin 5 |
51218 |
609588 |
GRX5 |
YPL059W |
GlutaRedoXin |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12 |
612362 |
PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
5122 |
162150 |
KEX2 |
YNL238W |
Killer EXpression defective |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
No
|
| PROPROTEIN CONVERTASE 1/3 DEFICIENCY |
600955 |
PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
5122 |
162150 |
KEX2 |
YNL238W |
Killer EXpression defective |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
No
|
| SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD |
608940 |
PCYT1A |
phosphate cytidylyltransferase 1, choline, alpha |
5130 |
123695 |
PCT1 |
YGR202C |
Phosphocholine CytidylylTransferase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA |
601952 |
POMP |
proteasome maturation protein |
51371 |
613386 |
UMP1 |
YBR173C |
Ubiquitin-Mediated Proteolysis |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 |
614053 |
ATP5E |
ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit |
514 |
606153 |
ATP15 |
YPL271W |
ATP synthase |
DiOPT |
OrthoFinder|PhylomeDB|PANTHER |
3 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6 |
600858 |
PRKAG2 |
protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
51422 |
602743 |
SNF4 |
YGL115W |
Sucrose NonFermenting |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL |
261740 |
PRKAG2 |
protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
51422 |
602743 |
SNF4 |
YGL115W |
Sucrose NonFermenting |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| WOLFF-PARKINSON-WHITE SYNDROME |
194200 |
PRKAG2 |
protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
51422 |
602743 |
SNF4 |
YGL115W |
Sucrose NonFermenting |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| INFANTILE LIVER FAILURE SYNDROME 1; ILFS1 |
615438 |
LARS |
leucyl-tRNA synthetase |
51520 |
151350 |
CDC60 |
YPL160W |
Cell Division Cycle |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD |
312170 |
PDHA1 |
pyruvate dehydrogenase (lipoamide) alpha 1 |
5160 |
300502 |
PDA1 |
YER178W |
Pyruvate Dehydrogenase Alpha |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D |
616299 |
LIPT1 |
lipoyltransferase 1 |
51601 |
610284 |
AIM22 |
YJL046W |
Altered Inheritance rate of Mitochondria |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 |
615398 |
PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
51604 |
610272 |
GPI16 |
YHR188C |
GlycosylPhosphatidylInositol anchor biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2 |
615399 |
PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
51604 |
610272 |
GPI16 |
YHR188C |
GlycosylPhosphatidylInositol anchor biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD |
614111 |
PDHB |
pyruvate dehydrogenase (lipoamide) beta |
5162 |
179060 |
PDB1 |
YBR221C |
Pyruvate Dehydrogenase Beta subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6 |
300905 |
PDK3 |
pyruvate dehydrogenase kinase, isozyme 3 |
5165 |
300906 |
PKP2 |
YGL059W |
Protein Kinase of PDH |
DiOPT |
Hieranoid|OMA|InParanoid |
3 |
9 |
Yes |
Yes
|
| NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD |
616263 |
PTRH2 |
peptidyl-tRNA hydrolase 2 |
51651 |
608625 |
PTH2 |
YBL057C |
Peptidyl-Trna Hydrolase |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD |
614741 |
MPC1 |
mitochondrial pyruvate carrier 1 |
51660 |
614738 |
MPC1 |
YGL080W |
Mitochondrial Pyruvate Carrier |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
208000 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP1 |
YCR026C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
208000 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP2 |
YEL016C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| COLE DISEASE; COLED |
615522 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP1 |
YCR026C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| COLE DISEASE; COLED |
615522 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP2 |
YEL016C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP1 |
YCR026C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP2 |
YEL016C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 |
613312 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP1 |
YCR026C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 |
613312 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP2 |
YEL016C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| OBESITY LEANNESS, INCLUDED |
601665 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP1 |
YCR026C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| OBESITY LEANNESS, INCLUDED |
601665 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
5167 |
173335 |
NPP2 |
YEL016C |
ecto-Nucleotide Pyrophosphatase/Phosphodiesterase |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
No
|
| DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 |
600791 |
SLC26A4 |
solute carrier family 26 (anion exchanger), member 4 |
5172 |
605646 |
|
YPR003C |
|
DiOPT |
SonicParanoid|OMA|Hieranoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| PENDRED SYNDROME; PDS |
274600 |
SLC26A4 |
solute carrier family 26 (anion exchanger), member 4 |
5172 |
605646 |
|
YPR003C |
|
DiOPT |
SonicParanoid|OMA|Hieranoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28 |
616211 |
WWOX |
WW domain containing oxidoreductase |
51741 |
605131 |
ENV9 |
YOR246C |
late ENdosome and Vacuole interface function |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SUSCEPTIBILITY TO, INCLUDED |
133239 |
WWOX |
WW domain containing oxidoreductase |
51741 |
605131 |
ENV9 |
YOR246C |
late ENdosome and Vacuole interface function |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 |
614322 |
WWOX |
WW domain containing oxidoreductase |
51741 |
605131 |
ENV9 |
YOR246C |
late ENdosome and Vacuole interface function |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 |
615268 |
ATP8A2 |
ATPase, aminophospholipid transporter, class I, type 8A, member 2 |
51761 |
605870 |
DRS2 |
YAL026C |
Deficiency of Ribosomal Subunits |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA |
613180 |
TUBA8 |
tubulin, alpha 8 |
51807 |
605742 |
TUB1 |
YML085C |
TUBulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA |
613180 |
TUBA8 |
tubulin, alpha 8 |
51807 |
605742 |
TUB3 |
YML124C |
TUBulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| PROLIDASE DEFICIENCY |
170100 |
PEPD |
peptidase D |
5184 |
613230 |
|
YFR006W |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HEIMLER SYNDROME 1; HMLR1 |
234580 |
PEX1 |
peroxisomal biogenesis factor 1 |
5189 |
602136 |
PEX1 |
YKL197C |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A |
214100 |
PEX1 |
peroxisomal biogenesis factor 1 |
5189 |
602136 |
PEX1 |
YKL197C |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 1B; PBD1B |
601539 |
PEX1 |
peroxisomal biogenesis factor 1 |
5189 |
602136 |
PEX1 |
YKL197C |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| HEIMLER SYNDROME 2; HMLR2 |
616617 |
PEX6 |
peroxisomal biogenesis factor 6 |
5190 |
601498 |
PEX6 |
YNL329C |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED; CG4, INCLUDED |
614862 |
PEX6 |
peroxisomal biogenesis factor 6 |
5190 |
601498 |
PEX6 |
YNL329C |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 4B; PBD4B |
614863 |
PEX6 |
peroxisomal biogenesis factor 6 |
5190 |
601498 |
PEX6 |
YNL329C |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 9B; PBD9B |
614879 |
PEX7 |
peroxisomal biogenesis factor 7 |
5191 |
601757 |
PEX7 |
YDR142C |
PEroXin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 |
215100 |
PEX7 |
peroxisomal biogenesis factor 7 |
5191 |
601757 |
PEX7 |
YDR142C |
PEroXin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, INCLUDED; CG7, INCLUDED |
614870 |
PEX10 |
peroxisomal biogenesis factor 10 |
5192 |
602859 |
PEX10 |
YDR265W |
PEroXin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 6B; PBD6B |
614871 |
PEX10 |
peroxisomal biogenesis factor 10 |
5192 |
602859 |
PEX10 |
YDR265W |
PEroXin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3, INCLUDED; CG3, INCLUDED |
614859 |
PEX12 |
peroxisomal biogenesis factor 12 |
5193 |
601758 |
PEX12 |
YMR026C |
PEroXin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 3B; PBD3B |
266510 |
PEX12 |
peroxisomal biogenesis factor 12 |
5193 |
601758 |
PEX12 |
YMR026C |
PEroXin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED; CG13, INCLUDED |
614883 |
PEX13 |
peroxisomal biogenesis factor 13 |
5194 |
601789 |
PEX13 |
YLR191W |
PEroXin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 11B; PBD11B |
614885 |
PEX13 |
peroxisomal biogenesis factor 13 |
5194 |
601789 |
PEX13 |
YLR191W |
PEroXin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K, INCLUDED; CGK, INCLUDED |
614887 |
PEX14 |
peroxisomal biogenesis factor 14 |
5195 |
601791 |
PEX14 |
YGL153W |
PEroXisome related |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 |
243300 |
ATP8B1 |
ATPase, aminophospholipid transporter, class I, type 8B, member 1 |
5205 |
602397 |
DNF1 |
YER166W |
Drs2 Neo1 Family |
DiOPT |
Ensembl Compara|OMA|PANTHER |
3 |
9 |
Yes |
No
|
| CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 |
147480 |
ATP8B1 |
ATPase, aminophospholipid transporter, class I, type 8B, member 1 |
5205 |
602397 |
DNF1 |
YER166W |
Drs2 Neo1 Family |
DiOPT |
Ensembl Compara|OMA|PANTHER |
3 |
9 |
Yes |
No
|
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 |
211600 |
ATP8B1 |
ATPase, aminophospholipid transporter, class I, type 8B, member 1 |
5205 |
602397 |
DNF1 |
YER166W |
Drs2 Neo1 Family |
DiOPT |
Ensembl Compara|OMA|PANTHER |
3 |
9 |
Yes |
No
|
| GLYCOGEN STORAGE DISEASE VII; GSD7 |
232800 |
PFKM |
phosphofructokinase, muscle |
5213 |
610681 |
PFK1 |
YGR240C |
PhosphoFructoKinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE VII; GSD7 |
232800 |
PFKM |
phosphofructokinase, muscle |
5213 |
610681 |
PFK2 |
YMR205C |
PhosphoFructoKinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE X; GSD10 |
261670 |
PGAM2 |
phosphoglycerate mutase 2 (muscle) |
5224 |
612931 |
GPM1 |
YKL152C |
Glycerate PhosphoMutase |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|InParanoid |
6 |
9 |
Yes |
Yes
|
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY |
300653 |
PGK1 |
phosphoglycerate kinase 1 |
5230 |
311800 |
PGK1 |
YCR012W |
3-PhosphoGlycerate Kinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T |
614921 |
PGM1 |
phosphoglucomutase 1 |
5236 |
171900 |
PGM1 |
YKL127W |
PhosphoGlucoMutase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T |
614921 |
PGM1 |
phosphoglucomutase 1 |
5236 |
171900 |
PGM2 |
YMR105C |
PhosphoGlucoMutase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| IMMUNODEFICIENCY 23; IMD23 |
615816 |
PGM3 |
phosphoglucomutase 3 |
5238 |
172100 |
PCM1 |
YEL058W |
PhosphoaCetylglucosamine Mutase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COLCHICINE RESISTANCE |
120080 |
ABCB1 |
ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
5243 |
171050 |
STE6 |
YKL209C |
STErile |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| INFLAMMATORY BOWEL DISEASE 13; IBD13 |
612244 |
ABCB1 |
ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
5243 |
171050 |
STE6 |
YKL209C |
STErile |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3 |
614972 |
ABCB4 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
5244 |
171060 |
STE6 |
YKL209C |
STErile |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3 |
602347 |
ABCB4 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
5244 |
171060 |
STE6 |
YKL209C |
STErile |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| GALLBLADDER DISEASE 1; GBD1 |
600803 |
ABCB4 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
5244 |
171060 |
STE6 |
YKL209C |
STErile |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| BREAST CANCER |
114480 |
PHB |
prohibitin |
5245 |
176705 |
PHB1 |
YGR132C |
ProHiBitin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS |
267300 |
ATP6V1B1 |
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 |
525 |
192132 |
VMA2 |
YBR127C |
Vacuolar Membrane Atpase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY |
610773 |
SLC25A3 |
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 |
5250 |
600370 |
MIR1 |
YJR077C |
Mitochondrial Import Receptor |
DiOPT |
Hieranoid|Ensembl Compara|OrthoFinder |
3 |
9 |
No |
Yes
|
| MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY |
610773 |
SLC25A3 |
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 |
5250 |
600370 |
PIC2 |
YER053C |
PI Carrier |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ZIMMERMANN-LABAND SYNDROME 2; ZLS2 |
616455 |
ATP6V1B2 |
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 |
526 |
606939 |
VMA2 |
YBR127C |
Vacuolar Membrane Atpase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| GLYCOGEN STORAGE DISEASE IXc; GSD9C |
613027 |
PHKG2 |
phosphorylase kinase, gamma 2 (testis) |
5261 |
172471 |
CMK1 |
YFR014C |
CalModulin dependent protein Kinase |
DiOPT |
Ensembl Compara|OMA|PANTHER |
3 |
9 |
Yes |
No
|
| REFSUM DISEASE, CLASSIC |
266500 |
PHYH |
phytanoyl-CoA 2-hydroxylase |
5264 |
602026 |
|
YJR154W |
|
DiOPT |
OrthoFinder|PANTHER |
2 |
9 |
Yes |
Yes
|
| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2 |
300868 |
PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
5277 |
311770 |
SPT14 |
YPL175W |
SuPpressor of Ty |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1 |
300818 |
PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
5277 |
311770 |
SPT14 |
YPL175W |
SuPpressor of Ty |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA |
616531 |
PI4KA |
phosphatidylinositol 4-kinase, catalytic, alpha |
5297 |
600286 |
STT4 |
YLR305C |
STaurosporine and Temperature sensitive |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES |
102900 |
PKLR |
pyruvate kinase, liver and RBC |
5313 |
609712 |
PYK2 |
YOR347C |
PYruvate Kinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| PYRUVATE KINASE DEFICIENCY OF RED CELLS |
266200 |
PKLR |
pyruvate kinase, liver and RBC |
5313 |
609712 |
PYK2 |
YOR347C |
PYruvate Kinase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| AURICULOCONDYLAR SYNDROME 2; ARCND2 |
614669 |
PLCB4 |
phospholipase C, beta 4 |
5332 |
600810 |
PLC1 |
YPL268W |
PhosphoLipase C |
DiOPT |
OrthoInspector|OrthoFinder|PANTHER |
3 |
9 |
Yes |
No
|
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3 |
151600 |
PLCD1 |
phospholipase C, delta 1 |
5333 |
602142 |
PLC1 |
YPL268W |
PhosphoLipase C |
DiOPT |
OMA|OrthoFinder|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID |
614878 |
PLCG2 |
phospholipase C, gamma 2 (phosphatidylinositol-specific) |
5336 |
600220 |
PLC1 |
YPL268W |
PhosphoLipase C |
DiOPT |
Ensembl Compara|PhylomeDB|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 |
614468 |
PLCG2 |
phospholipase C, gamma 2 (phosphatidylinositol-specific) |
5336 |
600220 |
PLC1 |
YPL268W |
PhosphoLipase C |
DiOPT |
Ensembl Compara|PhylomeDB|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18; BMND18 |
300910 |
PLS3 |
plastin 3 |
5358 |
300131 |
SAC6 |
YDR129C |
Suppressor of ACtin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A |
212065 |
PMM2 |
phosphomannomutase 2 |
5373 |
601785 |
SEC53 |
YFL045C |
SECretory |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENKES DISEASE |
309400 |
ATP7A |
ATPase, Cu++ transporting, alpha polypeptide |
538 |
300011 |
CCC2 |
YDR270W |
Cross-Complements Ca(2+) phenotype of csg1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| OCCIPITAL HORN SYNDROME; OHS |
304150 |
ATP7A |
ATPase, Cu++ transporting, alpha polypeptide |
538 |
300011 |
CCC2 |
YDR270W |
Cross-Complements Ca(2+) phenotype of csg1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 |
300489 |
ATP7A |
ATPase, Cu++ transporting, alpha polypeptide |
538 |
300011 |
CCC2 |
YDR270W |
Cross-Complements Ca(2+) phenotype of csg1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4 |
614337 |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
5395 |
600259 |
PMS1 |
YNL082W |
PostMeiotic Segregation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MISMATCH REPAIR CANCER SYNDROME; MMRCS |
276300 |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
5395 |
600259 |
PMS1 |
YNL082W |
PostMeiotic Segregation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| WILSON DISEASE |
277900 |
ATP7B |
ATPase, Cu++ transporting, beta polypeptide |
540 |
606882 |
CCC2 |
YDR270W |
Cross-Complements Ca(2+) phenotype of csg1 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| THROMBOCYTOPENIA 4; THC4 |
612004 |
CYCS |
cytochrome c, somatic |
54205 |
123970 |
CYC1 |
YJR048W |
CYtochrome C |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| THROMBOCYTOPENIA 4; THC4 |
612004 |
CYCS |
cytochrome c, somatic |
54205 |
123970 |
CYC7 |
YEL039C |
CYtochrome C |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| N SYNDROME; NSX |
310465 |
POLA1 |
polymerase (DNA directed), alpha 1, catalytic subunit |
5422 |
312040 |
POL1 |
YNL102W |
POLymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10 |
612591 |
POLD1 |
polymerase (DNA directed), delta 1, catalytic subunit |
5424 |
174761 |
POL3 |
YDL102W |
POLymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL |
615381 |
POLD1 |
polymerase (DNA directed), delta 1, catalytic subunit |
5424 |
174761 |
POL3 |
YDL102W |
POLymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12 |
615083 |
POLE |
polymerase (DNA directed), epsilon, catalytic subunit |
5426 |
174762 |
POL2 |
YNL262W |
POLymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS |
615139 |
POLE |
polymerase (DNA directed), epsilon, catalytic subunit |
5426 |
174762 |
POL2 |
YNL262W |
POLymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A |
203700 |
POLG |
polymerase (DNA directed), gamma |
5428 |
174763 |
MIP1 |
YOR330C |
MItochondrial DNA Polymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B |
613662 |
POLG |
polymerase (DNA directed), gamma |
5428 |
174763 |
MIP1 |
YOR330C |
MItochondrial DNA Polymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1 |
157640 |
POLG |
polymerase (DNA directed), gamma |
5428 |
174763 |
MIP1 |
YOR330C |
MItochondrial DNA Polymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1 |
258450 |
POLG |
polymerase (DNA directed), gamma |
5428 |
174763 |
MIP1 |
YOR330C |
MItochondrial DNA Polymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO |
607459 |
POLG |
polymerase (DNA directed), gamma |
5428 |
174763 |
MIP1 |
YOR330C |
MItochondrial DNA Polymerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV |
278750 |
POLH |
polymerase (DNA directed), eta |
5429 |
603968 |
RAD30 |
YDR419W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1 |
201750 |
POR |
P450 (cytochrome) oxidoreductase |
5447 |
124015 |
NCP1 |
YHR042W |
NADP-Cytochrome P450 reductase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY |
613571 |
POR |
P450 (cytochrome) oxidoreductase |
5447 |
124015 |
NCP1 |
YHR042W |
NADP-Cytochrome P450 reductase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 |
613038 |
POU1F1 |
POU class 1 homeobox 1 |
5449 |
173110 |
YOX1 |
YML027W |
Yeast homeobOX |
DiOPT |
Hieranoid|OrthoFinder |
2 |
9 |
Yes |
Yes
|
| CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL; FCTCS |
614564 |
ATR |
ATR serine/threonine kinase |
545 |
601215 |
MEC1 |
YBR136W |
Mitosis Entry Checkpoint |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SECKEL SYNDROME 1; SCKL1 |
210600 |
ATR |
ATR serine/threonine kinase |
545 |
601215 |
MEC1 |
YBR136W |
Mitosis Entry Checkpoint |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DEAFNESS, X-LINKED 2; DFNX2 |
304400 |
POU3F4 |
POU class 3 homeobox 4 |
5456 |
300039 |
YOX1 |
YML027W |
Yeast homeobOX |
DiOPT |
Hieranoid|OrthoFinder |
2 |
9 |
Yes |
Yes
|
| BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1 |
601816 |
UGT1A1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
54658 |
191740 |
ATG26 |
YLR189C |
AuTophaGy related |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| CRIGLER-NAJJAR SYNDROME, TYPE I |
218800 |
UGT1A1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
54658 |
191740 |
ATG26 |
YLR189C |
AuTophaGy related |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| CRIGLER-NAJJAR SYNDROME, TYPE II |
606785 |
UGT1A1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
54658 |
191740 |
ATG26 |
YLR189C |
AuTophaGy related |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| GILBERT SYNDROME |
143500 |
UGT1A1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
54658 |
191740 |
ATG26 |
YLR189C |
AuTophaGy related |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN |
237900 |
UGT1A1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
54658 |
191740 |
ATG26 |
YLR189C |
AuTophaGy related |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD |
608782 |
PDP1 |
pyruvate dehyrogenase phosphatase catalytic subunit 1 |
54704 |
605993 |
PTC5 |
YOR090C |
Phosphatase Two C |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GALACTOSIALIDOSIS; GSL |
256540 |
CTSA |
cathepsin A |
5476 |
613111 |
ATG42 |
YBR139W |
AuTophaGy |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
No |
Yes
|
| GALACTOSIALIDOSIS; GSL |
256540 |
CTSA |
cathepsin A |
5476 |
613111 |
PRC1 |
YMR297W |
PRoteinase C |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
Yes
|
| OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 |
259440 |
PPIB |
peptidylprolyl isomerase B (cyclophilin B) |
5479 |
123841 |
CPR2 |
YHR057C |
Cyclosporin A-sensitive Proline Rotamase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 |
259440 |
PPIB |
peptidylprolyl isomerase B (cyclophilin B) |
5479 |
123841 |
CPR5 |
YDR304C |
Cyclosporin-sensitive Proline Rotamase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| HYPOMAGNESEMIA 6, RENAL; HOMG6 |
613882 |
CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
54805 |
607803 |
MAM3 |
YOL060C |
|
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara |
3 |
9 |
Yes |
Yes
|
| HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR |
616418 |
CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
54805 |
607803 |
MAM3 |
YOL060C |
|
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara |
3 |
9 |
Yes |
Yes
|
| ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH |
208920 |
APTX |
aprataxin |
54840 |
606350 |
HNT3 |
YOR258W |
Histidine triad NucleoTide-binding |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5 |
611091 |
NSUN2 |
NOP2/Sun RNA methyltransferase family, member 2 |
54888 |
610916 |
NCL1 |
YBL024W |
NuCLear protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEUKEMIA, ACUTE MYELOID; AML |
601626 |
WHSC1L1 |
Wolf-Hirschhorn syndrome candidate 1-like 1 |
54904 |
607083 |
SET2 |
YJL168C |
SET domain-containing |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE |
614078 |
IMPAD1 |
inositol monophosphatase domain containing 1 |
54928 |
614010 |
MET22 |
YOL064C |
METhionine requiring |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS |
613845 |
SARS2 |
seryl-tRNA synthetase 2, mitochondrial |
54938 |
612804 |
DIA4 |
YHR011W |
Digs Into Agar |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PARAGANGLIOMAS 2; PGL2 |
601650 |
SDHAF2 |
succinate dehydrogenase complex assembly factor 2 |
54949 |
613019 |
SDH5 |
YOL071W |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE |
205950 |
SLC25A38 |
solute carrier family 25, member 38 |
54977 |
610819 |
HEM25 |
YDL119C |
HEMe synthesis by SLC25 family member |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PORPHYRIA VARIEGATA |
176200 |
PPOX |
protoporphyrinogen oxidase |
5498 |
600923 |
HEM14 |
YER014W |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11 |
614922 |
RMND1 |
required for meiotic nuclear division 1 homolog |
55005 |
614917 |
MRX10 |
YDR282C |
Mitochondrial oRganization of gene eXpression (MIOREX) |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 |
604367 |
PPP1R3A |
protein phosphatase 1, regulatory subunit 3A |
5506 |
600917 |
GAC1 |
YOR178C |
Glycogen ACcumulation |
DiOPT |
Ensembl Compara|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 |
604367 |
PPP1R3A |
protein phosphatase 1, regulatory subunit 3A |
5506 |
600917 |
GIP2 |
YER054C |
Glc7-Interacting Protein |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 |
604367 |
PPP1R3A |
protein phosphatase 1, regulatory subunit 3A |
5506 |
600917 |
PIG2 |
YIL045W |
Protein Interacting with Gsy2p |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 |
613728 |
ANO10 |
anoctamin 10 |
55129 |
613726 |
IST2 |
YBR086C |
Increased Sodium Tolerance |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES |
612079 |
RBM28 |
RNA binding motif protein 28 |
55131 |
612074 |
NOP4 |
YPL043W |
NucleOlar Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
Yes
|
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 |
613988 |
WRAP53 |
WD repeat containing, antisense to TP53 |
55135 |
612661 |
SWT21 |
YNL187W |
Synthetic With Tgs1 |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL |
611105 |
DARS2 |
aspartyl-tRNA synthetase 2, mitochondrial |
55157 |
610956 |
MSD1 |
YPL104W |
Mitochondrial aminoacyl-tRNA Synthetase, Aspartate (D) |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY |
610090 |
PNPO |
pyridoxamine 5'-phosphate oxidase |
55163 |
603287 |
PDX3 |
YBR035C |
PyriDoXine auxotrophy |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 36; MRD36 |
616362 |
PPP2R1A |
protein phosphatase 2, regulatory subunit A, alpha |
5518 |
605983 |
TPD3 |
YAL016W |
tRNA Processing Deficient |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED |
211980 |
PPP2R1B |
protein phosphatase 2, regulatory subunit A, beta |
5519 |
603113 |
TPD3 |
YAL016W |
tRNA Processing Deficient |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 |
615761 |
SETD5 |
SET domain containing 5 |
55209 |
615743 |
SET3 |
YKR029C |
SET domain-containing |
DiOPT |
Ensembl Compara|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 12; SCA12 |
604326 |
PPP2R2B |
protein phosphatase 2, regulatory subunit B, beta |
5521 |
604325 |
CDC55 |
YGL190C |
Cell Division Cycle |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E |
615851 |
VPS53 |
vacuolar protein sorting 53 homolog (S. cerevisiae) |
55275 |
615850 |
VPS53 |
YJL029C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 35; MRD35 |
616355 |
PPP2R5D |
protein phosphatase 2, regulatory subunit B', delta |
5528 |
601646 |
RTS1 |
YOR014W |
Rox Three Suppressor |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 |
616127 |
CWF19L1 |
CWF19-like 1, cell cycle control (S. pombe) |
55280 |
616120 |
DRN1 |
YGR093W |
Debranching enzyme-associated RiboNuclease |
DiOPT |
OrthoInspector|OMA|OrthoFinder|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME |
602782 |
SLC29A3 |
solute carrier family 29 (equilibrative nucleoside transporter), member 3 |
55315 |
612373 |
FUN26 |
YAL022C |
Function Unknown Now |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 |
224230 |
NOP10 |
NOP10 ribonucleoprotein |
55505 |
606471 |
NOP10 |
YHR072W-A |
NucleOlar Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC |
613280 |
SLC30A10 |
solute carrier family 30, member 10 |
55532 |
611146 |
COT1 |
YOR316C |
CObalt Toxicity |
DiOPT |
OrthoInspector|OrthoFinder|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC |
613280 |
SLC30A10 |
solute carrier family 30, member 10 |
55532 |
611146 |
ZRC1 |
YMR243C |
Zinc Resistance Conferring |
DiOPT |
OrthoInspector|OrthoFinder|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 |
239300 |
PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
55650 |
610274 |
GPI18 |
YBR004C |
GlycosylPhosphatidylInositol |
DiOPT |
OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2 |
613987 |
NHP2 |
NHP2 ribonucleoprotein |
55651 |
606470 |
NHP2 |
YDL208W |
Non-Histone Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 |
615830 |
PRKACA |
protein kinase, cAMP-dependent, catalytic, alpha |
5566 |
601639 |
TPK1 |
YJL164C |
Takashi's Protein Kinase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 |
615830 |
PRKACA |
protein kinase, cAMP-dependent, catalytic, alpha |
5566 |
601639 |
TPK2 |
YPL203W |
Takashi's Protein Kinase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 |
615830 |
PRKACA |
protein kinase, cAMP-dependent, catalytic, alpha |
5566 |
601639 |
TPK3 |
YKL166C |
Takashi's Protein Kinase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 |
616176 |
PRKACG |
protein kinase, cAMP-dependent, catalytic, gamma |
5568 |
176893 |
TPK1 |
YJL164C |
Takashi's Protein Kinase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 |
616176 |
PRKACG |
protein kinase, cAMP-dependent, catalytic, gamma |
5568 |
176893 |
TPK2 |
YPL203W |
Takashi's Protein Kinase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 |
616176 |
PRKACG |
protein kinase, cAMP-dependent, catalytic, gamma |
5568 |
176893 |
TPK3 |
YKL166C |
Takashi's Protein Kinase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| DEAFNESS, AMINOGLYCOSIDE-INDUCED |
580000 |
TRMU |
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase |
55687 |
610230 |
SLM3 |
YDL033C |
Synthetic Lethal with Mss4 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LIVER FAILURE, INFANTILE, TRANSIENT; LFIT |
613070 |
TRMU |
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase |
55687 |
610230 |
SLM3 |
YDL033C |
Synthetic Lethal with Mss4 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS |
616007 |
IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
55699 |
612801 |
ISM1 |
YPL040C |
Isoleucyl tRNA Synthetase of Mitochondria |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8 |
614381 |
POLR3B |
polymerase (RNA) III (DNA directed) polypeptide B |
55703 |
614366 |
RET1 |
YOR207C |
Reduced Efficiency of Termination |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE 17; PARK17 |
614203 |
VPS35 |
VPS35 retromer complex component |
55737 |
601501 |
VPS35 |
YJL154C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG |
615273 |
NGLY1 |
N-glycanase 1 |
55768 |
610661 |
PNG1 |
YPL096W |
Peptide N-Glycanase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1 |
607250 |
TDP1 |
tyrosyl-DNA phosphodiesterase 1 |
55775 |
607198 |
TDP1 |
YBR223C |
Tyrosyl-DNA Phosphodiesterase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 |
615559 |
PRKCD |
protein kinase C, delta |
5580 |
176977 |
PKC1 |
YBL105C |
Protein Kinase C |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| SPINOCEREBELLAR ATAXIA 14; SCA14 |
605361 |
PRKCG |
protein kinase C, gamma |
5582 |
176980 |
PKC1 |
YBL105C |
Protein Kinase C |
DiOPT |
OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| STROKE, ISCHEMIC |
601367 |
PRKCH |
protein kinase C, eta |
5583 |
605437 |
PKC1 |
YBL105C |
Protein Kinase C |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K |
614727 |
TMEM165 |
transmembrane protein 165 |
55858 |
614726 |
GDT1 |
YBR187W |
Gcr1 Dependent Translation factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CORNELIA DE LANGE SYNDROME 5; CDLS5 |
300882 |
HDAC8 |
histone deacetylase 8 |
55869 |
300269 |
HOS1 |
YPR068C |
Hda One Similar |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS |
309585 |
HDAC8 |
histone deacetylase 8 |
55869 |
300269 |
HOS1 |
YPR068C |
Hda One Similar |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| POLYCYSTIC LIVER DISEASE; PCLD |
174050 |
PRKCSH |
protein kinase C substrate 80K-H |
5589 |
177060 |
GTB1 |
YDR221W |
Glucosidase Two Beta-subunit |
DiOPT |
OrthoInspector|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3 |
615279 |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
5604 |
176872 |
STE7 |
YDL159W |
STErile |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4 |
615280 |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
5605 |
601263 |
STE7 |
YDL159W |
STErile |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K |
608540 |
ALG1 |
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase |
56052 |
605907 |
ALG1 |
YBR110W |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2 |
309120 |
TEX11 |
testis expressed 11 |
56159 |
300311 |
SPO22 |
YIL073C |
SPOrulation |
DiOPT |
OMA|OrthoFinder |
2 |
9 |
Yes |
Yes
|
| HYPERPROLINEMIA, TYPE I; HYRPRO1 |
239500 |
PRODH |
proline dehydrogenase (oxidase) 1 |
5625 |
606810 |
PUT1 |
YLR142W |
Proline UTilization |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| SCHIZOPHRENIA 4; SCZD4 |
600850 |
PRODH |
proline dehydrogenase (oxidase) 1 |
5625 |
606810 |
PUT1 |
YLR142W |
Proline UTilization |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| ARTS SYNDROME; ARTS |
301835 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS2 |
YER099C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ARTS SYNDROME; ARTS |
301835 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS3 |
YHL011C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
No |
Yes
|
| ARTS SYNDROME; ARTS |
301835 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS4 |
YBL068W |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 |
311070 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS2 |
YER099C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 |
311070 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS3 |
YHL011C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
No |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 |
311070 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS4 |
YBL068W |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| DEAFNESS, X-LINKED 1; DFNX1 |
304500 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS2 |
YER099C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| DEAFNESS, X-LINKED 1; DFNX1 |
304500 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS3 |
YHL011C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
No |
Yes
|
| DEAFNESS, X-LINKED 1; DFNX1 |
304500 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS4 |
YBL068W |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY |
300661 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS2 |
YER099C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY |
300661 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS3 |
YHL011C |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
No |
Yes
|
| PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY |
300661 |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
5631 |
311850 |
PRS4 |
YBL068W |
PhosphoRibosylpyrophosphate Synthetase |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL |
600142 |
HTRA1 |
HtrA serine peptidase 1 |
5654 |
602194 |
NMA111 |
YNL123W |
Nuclear Mediator of Apoptosis |
DiOPT |
Ensembl Compara|OrthoInspector |
2 |
9 |
Yes |
Yes
|
| MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO, INCLUDED |
610149 |
HTRA1 |
HtrA serine peptidase 1 |
5654 |
602194 |
NMA111 |
YNL123W |
Nuclear Mediator of Apoptosis |
DiOPT |
Ensembl Compara|OrthoInspector |
2 |
9 |
Yes |
Yes
|
| HYPOURICEMIA, RENAL, 2; RHUC2 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2, INCLUDED; UAQTL2, INCLUDED |
612076 |
SLC2A9 |
solute carrier family 2 (facilitated glucose transporter), member 9 |
56606 |
606142 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1, INCLUDED; MCI1, INCLUDED |
608446 |
PSMA6 |
proteasome subunit alpha 6 |
5687 |
602855 |
SCL1 |
YGL011C |
Suppressor of Crl3 ts Lethality |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ADERMATOGLYPHIA; ADERM |
136000 |
SMARCAD1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 |
56916 |
612761 |
FUN30 |
YAL019W |
Function Unknown Now |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D |
210200 |
MCCC1 |
methylcrotonoyl-CoA carboxylase 1 (alpha) |
56922 |
609010 |
DUR12 |
YBR208C |
Degradation of URea |
DiOPT |
OrthoInspector|PANTHER |
2 |
9 |
Yes |
Yes
|
| AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD |
256040 |
PSMB8 |
proteasome subunit beta 8 |
5696 |
177046 |
PRE2 |
YPR103W |
PRoteinase yscE |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
No
|
| COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 |
612016 |
ADCK3 |
aarF domain containing kinase 3 |
56997 |
606980 |
COQ8 |
YGL119W |
COenzyme Q |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 |
614654 |
COQ9 |
coenzyme Q9 |
57017 |
612837 |
COQ9 |
YLR201C |
COenzyme Q |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 |
611523 |
RARS2 |
arginyl-tRNA synthetase 2, mitochondrial |
57038 |
611524 |
MSR1 |
YHR091C |
Mitochondrial tRNA Synthetase aRginine |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 |
611523 |
RARS2 |
arginyl-tRNA synthetase 2, mitochondrial |
57038 |
611524 |
|
YDR341C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5 |
614417 |
CPA6 |
carboxypeptidase A6 |
57094 |
609562 |
ECM14 |
YHR132C |
ExtraCellular Mutant |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| FEBRILE SEIZURES, FAMILIAL, 11; FEB11 |
614418 |
CPA6 |
carboxypeptidase A6 |
57094 |
609562 |
ECM14 |
YHR132C |
ExtraCellular Mutant |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3 |
614652 |
PDSS2 |
prenyl (decaprenyl) diphosphate synthase, subunit 2 |
57107 |
610564 |
COQ1 |
YBR003W |
COenzyme Q |
DiOPT |
PANTHER|PhylomeDB|OrthoFinder |
3 |
9 |
Yes |
No
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19 |
615595 |
LYRM4 |
LYR motif containing 4 |
57128 |
613311 |
ISD11 |
YER048W-A |
Iron-Sulfur protein biogenesis, Desulfurase-interacting protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20 |
615917 |
VARS2 |
valyl-tRNA synthetase 2, mitochondrial |
57176 |
612802 |
VAS1 |
YGR094W |
VAlyl-tRNA Synthetase |
DiOPT |
Ensembl Compara|PhylomeDB|Hieranoid|PANTHER |
4 |
9 |
Yes |
No
|
| MENTAL RETARDATION, X-LINKED 12; MRX12 |
300957 |
THOC2 |
THO complex 2 |
57187 |
300395 |
THO2 |
YNL139C |
suppressor of the Transcriptional defect of Hpr1 by Overexpression |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD |
614023 |
PSPH |
phosphoserine phosphatase |
5723 |
172480 |
SER2 |
YGR208W |
SERine requiring |
DiOPT |
OrthoInspector|OrthoFinder|PANTHER|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS |
153480 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| COWDEN SYNDROME 1; CWS1 |
158350 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| ENDOMETRIAL CANCER |
608089 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| GLIOMA SUSCEPTIBILITY 2; GLM2 |
613028 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| MACROCEPHALY/AUTISM SYNDROME |
605309 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 |
155600 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO |
607174 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| PROSTATE CANCER |
176807 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC |
275355 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| VACTERL ASSOCIATION WITH HYDROCEPHALUS |
276950 |
PTEN |
phosphatase and tensin homolog |
5728 |
601728 |
TEP1 |
YNL128W |
TEnsin-like Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 |
614096 |
AARS2 |
alanyl-tRNA synthetase 2, mitochondrial |
57505 |
612035 |
ALA1 |
YOR335C |
ALAnyl-tRNA synthetase |
DiOPT |
PANTHER|PhylomeDB|OrthoFinder |
3 |
9 |
Yes |
No
|
| LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP |
615889 |
AARS2 |
alanyl-tRNA synthetase 2, mitochondrial |
57505 |
612035 |
ALA1 |
YOR335C |
ALAnyl-tRNA synthetase |
DiOPT |
PANTHER|PhylomeDB|OrthoFinder |
3 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L |
614576 |
COG6 |
component of oligomeric golgi complex 6 |
57511 |
606977 |
COG6 |
YNL041C |
Conserved Oligomeric Golgi complex |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SHAHEEN SYNDROME; SHNS |
615328 |
COG6 |
component of oligomeric golgi complex 6 |
57511 |
606977 |
COG6 |
YNL041C |
Conserved Oligomeric Golgi complex |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26 |
616539 |
TRMT5 |
tRNA methyltransferase 5 |
57570 |
611023 |
TRM5 |
YHR070W |
tRNA Methyltransferase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, FRA12A TYPE |
136630 |
DIP2B |
disco-interacting protein 2 homolog B |
57609 |
611379 |
CMR2 |
YOR093C |
Changed Mutation Rate |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
PTPN1 |
protein tyrosine phosphatase, non-receptor type 1 |
5770 |
176885 |
PTP1 |
YDL230W |
Protein Tyrosine Phosphatase |
DiOPT |
Hieranoid|Ensembl Compara|InParanoid|SonicParanoid |
4 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
AGP1 |
YCL025C |
high-Affinity Glutamine Permease |
DiOPT |
Ensembl Compara|OrthoInspector|InParanoid|SonicParanoid |
4 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
AGP2 |
YBR132C |
high-Affinity Glutamine Permease |
DiOPT |
Ensembl Compara|InParanoid|SonicParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
AGP3 |
YFL055W |
high-Affinity Glutamine Permease |
DiOPT |
Ensembl Compara|InParanoid|SonicParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
ALP1 |
YNL270C |
|
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
BAP3 |
YDR046C |
Branched-chain Amino acid Permease |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
CAN1 |
YEL063C |
CANavanine resistance |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
DIP5 |
YPL265W |
DIcarboxylic amino acid Permease |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
GAP1 |
YKR039W |
General Amino acid Permease |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
GNP1 |
YDR508C |
GlutamiNe Permease |
DiOPT |
Ensembl Compara|PhylomeDB|InParanoid|SonicParanoid |
4 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
MMP1 |
YLL061W |
S-MethylMethionine Permease |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
PUT4 |
YOR348C |
Proline UTilization |
DiOPT |
Ensembl Compara|InParanoid|SonicParanoid |
3 |
9 |
No |
Yes
|
| RETINITIS PIGMENTOSA 68; RP68 |
615725 |
SLC7A14 |
solute carrier family 7, member 14 |
57709 |
615720 |
SAM3 |
YPL274W |
S-AdenosylMethionine metabolism |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
No |
Yes
|
| MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
255310 |
ACTA1 |
actin, alpha 1, skeletal muscle |
58 |
102610 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| NEMALINE MYOPATHY 3; NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED |
161800 |
ACTA1 |
actin, alpha 1, skeletal muscle |
58 |
102610 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 14, INCLUDED |
614886 |
PEX19 |
peroxisomal biogenesis factor 19 |
5824 |
600279 |
PEX19 |
YDL065C |
PEroXisome related |
DiOPT |
Hieranoid|PANTHER|Ensembl Compara|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 |
616278 |
ABCD3 |
ATP-binding cassette, sub-family D (ALD), member 3 |
5825 |
170995 |
PXA1 |
YPL147W |
PeroXisomal ABC-transporter |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED; CG5, INCLUDED |
614866 |
PEX2 |
peroxisomal biogenesis factor 2 |
5828 |
170993 |
PEX2 |
YJL210W |
PEroXin |
DiOPT |
PhylomeDB|InParanoid|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 5B; PBD5B |
614867 |
PEX2 |
peroxisomal biogenesis factor 2 |
5828 |
170993 |
PEX2 |
YJL210W |
PEroXin |
DiOPT |
PhylomeDB|InParanoid|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED; CG2, INCLUDED |
214110 |
PEX5 |
peroxisomal biogenesis factor 5 |
5830 |
600414 |
PEX5 |
YDR244W |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED; CG2, INCLUDED |
214110 |
PEX5 |
peroxisomal biogenesis factor 5 |
5830 |
600414 |
PEX9 |
YMR018W |
PEroXin |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
No |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 2B; PBD2B |
202370 |
PEX5 |
peroxisomal biogenesis factor 5 |
5830 |
600414 |
PEX5 |
YDR244W |
PEroXin |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 2B; PBD2B |
202370 |
PEX5 |
peroxisomal biogenesis factor 5 |
5830 |
600414 |
PEX9 |
YMR018W |
PEroXin |
DiOPT |
Ensembl Compara|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
No |
Yes
|
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B |
612940 |
PYCR1 |
pyrroline-5-carboxylate reductase 1 |
5831 |
179035 |
PRO3 |
YER023W |
PROline requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B |
614438 |
PYCR1 |
pyrroline-5-carboxylate reductase 1 |
5831 |
179035 |
PRO3 |
YER023W |
PROline requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3 |
616603 |
ALDH18A1 |
aldehyde dehydrogenase 18 family, member A1 |
5832 |
138250 |
PRO2 |
YOR323C |
PROline requiring |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A |
219150 |
ALDH18A1 |
aldehyde dehydrogenase 18 family, member A1 |
5832 |
138250 |
PRO2 |
YOR323C |
PROline requiring |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A |
601162 |
ALDH18A1 |
aldehyde dehydrogenase 18 family, member A1 |
5832 |
138250 |
PRO2 |
YOR323C |
PROline requiring |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B |
616586 |
ALDH18A1 |
aldehyde dehydrogenase 18 family, member A1 |
5832 |
138250 |
PRO2 |
YOR323C |
PROline requiring |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE VI; GSD6 |
232700 |
PYGL |
phosphorylase, glycogen, liver |
5836 |
613741 |
GPH1 |
YPR160W |
Glycogen PHosphorylase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOGEN STORAGE DISEASE V; GSD5 |
232600 |
PYGM |
phosphorylase, glycogen, muscle |
5837 |
608455 |
GPH1 |
YPR160W |
Glycogen PHosphorylase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA |
615760 |
QARS |
glutaminyl-tRNA synthetase |
5859 |
603727 |
GLN4 |
YOR168W |
GLutamiNe metabolism |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CORNELIA DE LANGE SYNDROME 4; CDLS4 |
614701 |
RAD21 |
RAD21 cohesin complex component |
5885 |
606462 |
MCD1 |
YDL003W |
Mitotic Chromosome Determinant |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| BREAST CANCER |
114480 |
RAD51 |
RAD51 recombinase |
5888 |
179617 |
RAD51 |
YER095W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MIRROR MOVEMENTS 2; MRMV2 |
614508 |
RAD51 |
RAD51 recombinase |
5888 |
179617 |
RAD51 |
YER095W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 |
611788 |
ACTA2 |
actin, alpha 2, smooth muscle, aorta |
59 |
102620 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| MOYAMOYA DISEASE 5; MYMY5 |
614042 |
ACTA2 |
actin, alpha 2, smooth muscle, aorta |
59 |
102620 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME |
613834 |
ACTA2 |
actin, alpha 2, smooth muscle, aorta |
59 |
102620 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| BRACHYOLMIA TYPE 3; BCYM3 |
113500 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB |
606835 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C |
606071 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| METATROPIC DYSPLASIA |
156530 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; HMN8 |
600175 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PARASTREMMATIC DWARFISM |
168400 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA |
181405 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL1 HYPONATREMIA, INCLUDED |
613508 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE |
184095 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK |
184252 |
TRPV4 |
transient receptor potential cation channel, subfamily V, member 4 |
59341 |
605427 |
YVC1 |
YOR087W |
Yeast Vacuolar Conductance |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF |
615185 |
GNB4 |
guanine nucleotide binding protein (G protein), beta polypeptide 4 |
59345 |
610863 |
STE4 |
YOR212W |
STErile |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| COLORECTAL CANCER; CRC |
114500 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN1 |
YMR199W |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN2 |
YPL256C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN3 |
YAL040C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MYELOMA, MULTIPLE AMYLOIDOSIS, SYSTEMIC, INCLUDED; AL, INCLUDED |
254500 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN1 |
YMR199W |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MYELOMA, MULTIPLE AMYLOIDOSIS, SYSTEMIC, INCLUDED; AL, INCLUDED |
254500 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN2 |
YPL256C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MYELOMA, MULTIPLE AMYLOIDOSIS, SYSTEMIC, INCLUDED; AL, INCLUDED |
254500 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN3 |
YAL040C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| VON HIPPEL-LINDAU SYNDROME; VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED |
193300 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN1 |
YMR199W |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| VON HIPPEL-LINDAU SYNDROME; VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED |
193300 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN2 |
YPL256C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| VON HIPPEL-LINDAU SYNDROME; VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED |
193300 |
CCND1 |
cyclin D1 |
595 |
168461 |
CLN3 |
YAL040C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2 |
613092 |
REN |
renin |
5972 |
179820 |
PEP4 |
YPL154C |
carboxyPEPtidase Y-deficient |
DiOPT |
OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| RENAL TUBULAR DYSGENESIS; RTD |
267430 |
REN |
renin |
5972 |
179820 |
PEP4 |
YPL154C |
carboxyPEPtidase Y-deficient |
DiOPT |
OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| BARAITSER-WINTER SYNDROME 1; BRWS1 |
243310 |
ACTB |
actin, beta |
60 |
102630 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DYSTONIA, JUVENILE-ONSET; DJO |
607371 |
ACTB |
actin, beta |
60 |
102630 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MICROCEPHALY, AMISH TYPE; MCPHA |
607196 |
SLC25A19 |
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 |
60386 |
606521 |
TPC1 |
YGR096W |
Thiamine Pyrophosphate Carrier |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4 |
613710 |
SLC25A19 |
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 |
60386 |
606521 |
TPC1 |
YGR096W |
Thiamine Pyrophosphate Carrier |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 38; SCA38 |
615957 |
ELOVL5 |
ELOVL fatty acid elongase 5 |
60481 |
611805 |
ELO1 |
YJL196C |
ELOngation defective |
DiOPT |
Ensembl Compara|OrthoInspector|OMA |
3 |
9 |
Yes |
No
|
| SPINOCEREBELLAR ATAXIA 38; SCA38 |
615957 |
ELOVL5 |
ELOVL fatty acid elongase 5 |
60481 |
611805 |
ELO2 |
YCR034W |
fatty acid ELOngation |
DiOPT |
Ensembl Compara|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| SPINOCEREBELLAR ATAXIA 38; SCA38 |
615957 |
ELOVL5 |
ELOVL fatty acid elongase 5 |
60481 |
611805 |
ELO3 |
YLR372W |
fatty acid ELOngation |
DiOPT |
Ensembl Compara|OrthoInspector|OMA |
3 |
9 |
Yes |
No
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17 |
615440 |
ELAC2 |
elaC ribonuclease Z 2 |
60528 |
605367 |
TRZ1 |
YKR079C |
tRNase Z |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PROSTATE CANCER, HEREDITARY, 2; HPC2 |
614731 |
ELAC2 |
elaC ribonuclease Z 2 |
60528 |
605367 |
TRZ1 |
YKR079C |
tRNase Z |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 6; DBA6 |
612561 |
RPL5 |
ribosomal protein L5 |
6125 |
603634 |
RPL5 |
YPL131W |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5 |
300847 |
RPL10 |
ribosomal protein L10 |
6134 |
312173 |
RPL10 |
YLR075W |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 7; DBA7 |
612562 |
RPL11 |
ribosomal protein L11 |
6135 |
604175 |
RPL11A |
YPR102C |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 7; DBA7 |
612562 |
RPL11 |
ribosomal protein L11 |
6135 |
604175 |
RPL11B |
YGR085C |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 12; DBA12 |
615550 |
RPL15 |
ribosomal protein L15 |
6138 |
604174 |
RPL15A |
YLR029C |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 12; DBA12 |
615550 |
RPL15 |
ribosomal protein L15 |
6138 |
604174 |
RPL15B |
YMR121C |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPOTRICHOSIS 12; HYPT12 |
615885 |
RPL21 |
ribosomal protein L21 |
6144 |
603636 |
RPL21A |
YBR191W |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPOTRICHOSIS 12; HYPT12 |
615885 |
RPL21 |
ribosomal protein L21 |
6144 |
603636 |
RPL21B |
YPL079W |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 11; DBA11 |
614900 |
RPL26 |
ribosomal protein L26 |
6154 |
603704 |
RPL26A |
YLR344W |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 11; DBA11 |
614900 |
RPL26 |
ribosomal protein L26 |
6154 |
603704 |
RPL26B |
YGR034W |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 5; DBA5 |
612528 |
RPL35A |
ribosomal protein L35a |
6165 |
180468 |
RPL33A |
YPL143W |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 5; DBA5 |
612528 |
RPL35A |
ribosomal protein L35a |
6165 |
180468 |
RPL33B |
YOR234C |
Ribosomal Protein of the Large subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| BJORNSTAD SYNDROME; BJS |
262000 |
BCS1L |
BC1 (ubiquinol-cytochrome c reductase) synthesis-like |
617 |
603647 |
BCS1 |
YDR375C |
ubiquinol-cytochrome c reductase (bc1) Synthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GRACILE SYNDROME |
603358 |
BCS1L |
BC1 (ubiquinol-cytochrome c reductase) synthesis-like |
617 |
603647 |
BCS1 |
YDR375C |
ubiquinol-cytochrome c reductase (bc1) Synthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEIGH SYNDROME; LS |
256000 |
BCS1L |
BC1 (ubiquinol-cytochrome c reductase) synthesis-like |
617 |
603647 |
BCS1 |
YDR375C |
ubiquinol-cytochrome c reductase (bc1) Synthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 |
124000 |
BCS1L |
BC1 (ubiquinol-cytochrome c reductase) synthesis-like |
617 |
603647 |
BCS1 |
YDR375C |
ubiquinol-cytochrome c reductase (bc1) Synthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COFFIN-LOWRY SYNDROME; CLS |
303600 |
RPS6KA3 |
ribosomal protein S6 kinase, 90kDa, polypeptide 3 |
6197 |
300075 |
YPK3 |
YBR028C |
|
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED 19; MRX19 |
300844 |
RPS6KA3 |
ribosomal protein S6 kinase, 90kDa, polypeptide 3 |
6197 |
300075 |
YPK3 |
YBR028C |
|
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 8; DBA8 |
612563 |
RPS7 |
ribosomal protein S7 |
6201 |
603658 |
RPS7A |
YOR096W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 8; DBA8 |
612563 |
RPS7 |
ribosomal protein S7 |
6201 |
603658 |
RPS7B |
YNL096C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 9; DBA9 |
613308 |
RPS10 |
ribosomal protein S10 |
6204 |
603632 |
RPS10A |
YOR293W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 9; DBA9 |
613308 |
RPS10 |
ribosomal protein S10 |
6204 |
603632 |
RPS10B |
YMR230W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| CHROMOSOME 5q DELETION SYNDROME |
153550 |
RPS14 |
ribosomal protein S14 |
6208 |
130620 |
RPS14A |
YCR031C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHROMOSOME 5q DELETION SYNDROME |
153550 |
RPS14 |
ribosomal protein S14 |
6208 |
130620 |
RPS14B |
YJL191W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 4; DBA4 |
612527 |
RPS17 |
ribosomal protein S17 |
6218 |
180472 |
RPS17A |
YML024W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 4; DBA4 |
612527 |
RPS17 |
ribosomal protein S17 |
6218 |
180472 |
RPS17B |
YDR447C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 1; DBA1 |
105650 |
RPS19 |
ribosomal protein S19 |
6223 |
603474 |
RPS19A |
YOL121C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 1; DBA1 |
105650 |
RPS19 |
ribosomal protein S19 |
6223 |
603474 |
RPS19B |
YNL302C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 3; DBA3 |
610629 |
RPS24 |
ribosomal protein S24 |
6229 |
602412 |
RPS24A |
YER074W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 3; DBA3 |
610629 |
RPS24 |
ribosomal protein S24 |
6229 |
602412 |
RPS24B |
YIL069C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 10; DBA10 |
613309 |
RPS26 |
ribosomal protein S26 |
6231 |
603701 |
RPS26A |
YGL189C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 10; DBA10 |
613309 |
RPS26 |
ribosomal protein S26 |
6231 |
603701 |
RPS26B |
YER131W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15 |
606164 |
RPS28 |
ribosomal protein S28 |
6234 |
603685 |
RPS28A |
YOR167C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15 |
606164 |
RPS28 |
ribosomal protein S28 |
6234 |
603685 |
RPS28B |
YLR264W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 13; DBA13 |
615909 |
RPS29 |
ribosomal protein S29 |
6235 |
603633 |
RPS29A |
YLR388W |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 13; DBA13 |
615909 |
RPS29 |
ribosomal protein S29 |
6235 |
603633 |
RPS29B |
YDL061C |
Ribosomal Protein of the Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6 |
613589 |
SORT1 |
sortilin 1 |
6272 |
602458 |
EMA35 |
YCR100C |
Efficient Mitochondria targeting-Associated protein |
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6 |
613589 |
SORT1 |
sortilin 1 |
6272 |
602458 |
VTH1 |
YIL173W |
Vps Ten Homolog |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
No |
Yes
|
| LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6 |
613589 |
SORT1 |
sortilin 1 |
6272 |
602458 |
VTH2 |
YJL222W |
Vps Ten Homolog |
DiOPT |
SonicParanoid|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
No |
Yes
|
| LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6 |
613589 |
SORT1 |
sortilin 1 |
6272 |
602458 |
|
YNR065C |
|
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
Yes
|
| LATHOSTEROLOSIS |
607330 |
SC5D |
sterol-C5-desaturase |
6309 |
602286 |
ERG3 |
YLR056W |
ERGosterol biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE, LATE-ONSET; PD |
168600 |
ATXN2 |
ataxin 2 |
6311 |
601517 |
PBP1 |
YGR178C |
Pab1p-Binding Protein |
DiOPT |
OrthoInspector|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 2; SCA2 |
183090 |
ATXN2 |
ataxin 2 |
6311 |
601517 |
PBP1 |
YGR178C |
Pab1p-Binding Protein |
DiOPT |
OrthoInspector|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6 |
607208 |
SCN1A |
sodium channel, voltage gated, type I alpha subunit |
6323 |
182389 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|InParanoid|SonicParanoid |
3 |
9 |
Yes |
No
|
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 |
604403 |
SCN1A |
sodium channel, voltage gated, type I alpha subunit |
6323 |
182389 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|InParanoid|SonicParanoid |
3 |
9 |
Yes |
No
|
| MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 |
609634 |
SCN1A |
sodium channel, voltage gated, type I alpha subunit |
6323 |
182389 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|InParanoid|SonicParanoid |
3 |
9 |
Yes |
No
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11 |
613721 |
SCN2A |
sodium channel, voltage gated, type II alpha subunit |
6326 |
182390 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 |
607745 |
SCN2A |
sodium channel, voltage gated, type II alpha subunit |
6326 |
182390 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| HYPERKALEMIC PERIODIC PARALYSIS; HYPP |
170500 |
SCN4A |
sodium channel, voltage gated, type IV alpha subunit |
6329 |
603967 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|OMA|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2 |
613345 |
SCN4A |
sodium channel, voltage gated, type IV alpha subunit |
6329 |
603967 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|OMA|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 |
614198 |
SCN4A |
sodium channel, voltage gated, type IV alpha subunit |
6329 |
603967 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|OMA|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| MYOTONIA, POTASSIUM-AGGRAVATED |
608390 |
SCN4A |
sodium channel, voltage gated, type IV alpha subunit |
6329 |
603967 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|OMA|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC |
168300 |
SCN4A |
sodium channel, voltage gated, type IV alpha subunit |
6329 |
603967 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|OMA|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10 |
614022 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| BRUGADA SYNDROME 1; BRGDA1 |
601144 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| CARDIOMYOPATHY, DILATED, 1E; CMD1E |
601154 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| LONG QT SYNDROME 3; LQT3 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED |
603830 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A |
113900 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1 |
608567 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| SUDDEN INFANT DEATH SYNDROME |
272120 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, INCLUDED |
603829 |
SCN5A |
sodium channel, voltage gated, type V alpha subunit |
6331 |
600163 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT |
614306 |
SCN8A |
sodium channel, voltage gated, type VIII alpha subunit |
6334 |
600702 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|InParanoid|SonicParanoid |
3 |
9 |
Yes |
No
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13 |
614558 |
SCN8A |
sodium channel, voltage gated, type VIII alpha subunit |
6334 |
600702 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|InParanoid|SonicParanoid |
3 |
9 |
Yes |
No
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6 |
607208 |
SCN9A |
sodium channel, voltage gated, type IX alpha subunit |
6335 |
603415 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| ERYTHERMALGIA, PRIMARY |
133020 |
SCN9A |
sodium channel, voltage gated, type IX alpha subunit |
6335 |
603415 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 |
613863 |
SCN9A |
sodium channel, voltage gated, type IX alpha subunit |
6335 |
603415 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP |
243000 |
SCN9A |
sodium channel, voltage gated, type IX alpha subunit |
6335 |
603415 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| PAROXYSMAL EXTREME PAIN DISORDER |
167400 |
SCN9A |
sodium channel, voltage gated, type IX alpha subunit |
6335 |
603415 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 |
615551 |
SCN10A |
sodium channel, voltage gated, type X alpha subunit |
6336 |
604427 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
No
|
| MITOCHONDRIAL COMPLEX IV DEFICIENCY |
220110 |
SCO1 |
SCO1 cytochrome c oxidase assembly protein |
6341 |
603644 |
SCO1 |
YBR037C |
Suppressor of Cytochrome Oxidase deficiency |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX IV DEFICIENCY |
220110 |
SCO1 |
SCO1 cytochrome c oxidase assembly protein |
6341 |
603644 |
SCO2 |
YBR024W |
Suppressor of Cytochrome Oxidase deficiency |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
No |
Yes
|
| CARDIOMYOPATHY, DILATED, 1GG; CMD1GG |
613642 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH1 |
YKL148C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| CARDIOMYOPATHY, DILATED, 1GG; CMD1GG |
613642 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH9 |
YJL045W |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEIGH SYNDROME; LS |
256000 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH1 |
YKL148C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| LEIGH SYNDROME; LS |
256000 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH9 |
YJL045W |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX II DEFICIENCY |
252011 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH1 |
YKL148C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| MITOCHONDRIAL COMPLEX II DEFICIENCY |
252011 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH9 |
YJL045W |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PARAGANGLIOMAS 5; PGL5 |
614165 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH1 |
YKL148C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| PARAGANGLIOMAS 5; PGL5 |
614165 |
SDHA |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
6389 |
600857 |
SDH9 |
YJL045W |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COWDEN SYNDROME 2; CWS2 |
612359 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
6390 |
185470 |
SDH2 |
YLL041C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GASTROINTESTINAL STROMAL TUMOR; GIST |
606764 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
6390 |
185470 |
SDH2 |
YLL041C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
606864 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
6390 |
185470 |
SDH2 |
YLL041C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PARAGANGLIOMAS 4; PGL4 |
115310 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
6390 |
185470 |
SDH2 |
YLL041C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO |
171300 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
6390 |
185470 |
SDH2 |
YLL041C |
Succinate DeHydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GASTROINTESTINAL STROMAL TUMOR; GIST |
606764 |
SDHC |
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
6391 |
602413 |
SDH3 |
YKL141W |
Succinate DeHydrogenase |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| GASTROINTESTINAL STROMAL TUMOR; GIST |
606764 |
SDHC |
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
6391 |
602413 |
SHH3 |
YMR118C |
SDH3 Homolog |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
606864 |
SDHC |
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
6391 |
602413 |
SDH3 |
YKL141W |
Succinate DeHydrogenase |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
606864 |
SDHC |
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
6391 |
602413 |
SHH3 |
YMR118C |
SDH3 Homolog |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PARAGANGLIOMAS 3; PGL3 |
605373 |
SDHC |
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
6391 |
602413 |
SDH3 |
YKL141W |
Succinate DeHydrogenase |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PARAGANGLIOMAS 3; PGL3 |
605373 |
SDHC |
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
6391 |
602413 |
SHH3 |
YMR118C |
SDH3 Homolog |
DiOPT |
OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
DAL5 |
YJR152W |
Degradation of Allantoin |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
FEN2 |
YCR028C |
FENpropimorph resistance |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
SEO1 |
YAL067C |
Suppressor of sulfoxyde EthiOnine resistance |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
SOA1 |
YIL166C |
SulfOnAte transport |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
THI73 |
YLR004C |
THIamine regulon |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
TNA1 |
YGR260W |
Transporter of Nicotinic Acid |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
VHT1 |
YGR065C |
Vitamin H Transporter |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 |
616063 |
SLC17A9 |
solute carrier family 17 (vesicular nucleotide transporter), member 9 |
63910 |
612107 |
YCT1 |
YLL055W |
Yeast Cysteine Transporter |
DiOPT |
Hieranoid|Ensembl Compara |
2 |
9 |
Yes |
Yes
|
| CARCINOID TUMORS, INTESTINAL |
114900 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SDH4 |
YDR178W |
Succinate DeHydrogenase |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
No |
Yes
|
| CARCINOID TUMORS, INTESTINAL |
114900 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SHH4 |
YLR164W |
SDH4 Homolog |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| CARCINOID TUMORS, INTESTINAL |
114900 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
TIM18 |
YOR297C |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| COWDEN SYNDROME 3; CWS3 |
615106 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SDH4 |
YDR178W |
Succinate DeHydrogenase |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
No |
Yes
|
| COWDEN SYNDROME 3; CWS3 |
615106 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SHH4 |
YLR164W |
SDH4 Homolog |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| COWDEN SYNDROME 3; CWS3 |
615106 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
TIM18 |
YOR297C |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX II DEFICIENCY |
252011 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SDH4 |
YDR178W |
Succinate DeHydrogenase |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
No |
Yes
|
| MITOCHONDRIAL COMPLEX II DEFICIENCY |
252011 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SHH4 |
YLR164W |
SDH4 Homolog |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| MITOCHONDRIAL COMPLEX II DEFICIENCY |
252011 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
TIM18 |
YOR297C |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
606864 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SDH4 |
YDR178W |
Succinate DeHydrogenase |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
No |
Yes
|
| PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
606864 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SHH4 |
YLR164W |
SDH4 Homolog |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
606864 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
TIM18 |
YOR297C |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PARAGANGLIOMAS 1; PGL1 |
168000 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SDH4 |
YDR178W |
Succinate DeHydrogenase |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
No |
Yes
|
| PARAGANGLIOMAS 1; PGL1 |
168000 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SHH4 |
YLR164W |
SDH4 Homolog |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| PARAGANGLIOMAS 1; PGL1 |
168000 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
TIM18 |
YOR297C |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO |
171300 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SDH4 |
YDR178W |
Succinate DeHydrogenase |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
No |
Yes
|
| PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO |
171300 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
SHH4 |
YLR164W |
SDH4 Homolog |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
No |
Yes
|
| PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO |
171300 |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
6392 |
602690 |
TIM18 |
YOR297C |
Translocase of the Inner Mitochondrial membrane |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1 |
613159 |
XPNPEP3 |
X-prolyl aminopeptidase 3, mitochondrial |
63929 |
613553 |
ICP55 |
YER078C |
Intermediate Cleaving Peptidase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT |
313400 |
TRAPPC2 |
trafficking protein particle complex 2 |
6399 |
300202 |
TRS20 |
YBR254C |
TRapp Subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| BLOOM SYNDROME; BLM |
210900 |
BLM |
Bloom syndrome, RecQ helicase-like |
641 |
604610 |
SGS1 |
YMR190C |
Slow Growth Suppressor |
DiOPT |
SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
YRF1-6 |
YNL339C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YBL113C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YHL050C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YIL177C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YJL225C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YLL066C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YLL067C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| AICARDI-GOUTIERES SYNDROME 7; AGS7 |
615846 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YML133C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
YRF1-6 |
YNL339C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YBL113C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YHL050C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YIL177C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YJL225C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YLL066C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YLL067C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SINGLETON-MERTEN SYNDROME 1; SGMRT1 |
182250 |
IFIH1 |
interferon induced with helicase C domain 1 |
64135 |
606951 |
|
YML133C |
|
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| ALZHEIMER DISEASE; AD |
104300 |
BLMH |
bleomycin hydrolase |
642 |
602403 |
LAP3 |
YNL239W |
Leucine AminoPeptidases |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GALLBLADDER DISEASE 4; GBD4 |
611465 |
ABCG8 |
ATP-binding cassette, sub-family G (WHITE), member 8 |
64241 |
605460 |
|
YOL075C |
|
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| SITOSTEROLEMIA |
210250 |
ABCG8 |
ATP-binding cassette, sub-family G (WHITE), member 8 |
64241 |
605460 |
|
YOL075C |
|
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| BECKWITH-WIEDEMANN SYNDROME; BWS |
130650 |
NSD1 |
nuclear receptor binding SET domain protein 1 |
64324 |
606681 |
SET2 |
YJL168C |
SET domain-containing |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| LEUKEMIA, ACUTE MYELOID; AML |
601626 |
NSD1 |
nuclear receptor binding SET domain protein 1 |
64324 |
606681 |
SET2 |
YJL168C |
SET domain-containing |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| SOTOS SYNDROME 1; SOTOS1 |
117550 |
NSD1 |
nuclear receptor binding SET domain protein 1 |
64324 |
606681 |
SET2 |
YJL168C |
SET domain-containing |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8 |
613943 |
LIPN |
lipase, family member N |
643418 |
613924 |
TGL1 |
YKL140W |
TriGlyceride Lipase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MARINESCO-SJOGREN SYNDROME; MSS |
248800 |
SIL1 |
SIL1 nucleotide exchange factor |
64374 |
608005 |
SIL1 |
YOL031C |
Suppressor of the Ire1/Lhs1 double mutant |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|InParanoid |
5 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX II DEFICIENCY |
252011 |
SDHAF1 |
succinate dehydrogenase complex assembly factor 1 |
644096 |
612848 |
SDH6 |
YDR379C-A |
|
DiOPT |
Hieranoid|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| LEBER CONGENITAL AMAUROSIS 9; LCA9 |
608553 |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
64802 |
608700 |
NMA1 |
YLR328W |
Nicotinamide Mononucleotide Adenylyltransferase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LEBER CONGENITAL AMAUROSIS 9; LCA9 |
608553 |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
64802 |
608700 |
NMA2 |
YGR010W |
Nicotinamide Mononucleotide Adenylyltransferase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| TRICHOHEPATOENTERIC SYNDROME 2; THES2 |
614602 |
SKIV2L |
SKI2 homolog, superkiller viralicidic activity 2-like |
6499 |
600478 |
SKI2 |
YLR398C |
SuperKIller |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16 |
615395 |
MRPL44 |
mitochondrial ribosomal protein L44 |
65080 |
611849 |
MRPL3 |
YMR024W |
Mitochondrial Ribosomal Protein, Large subunit |
DiOPT |
Hieranoid|InParanoid|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 |
300676 |
UPF3B |
UPF3 regulator of nonsense transcripts homolog B (yeast) |
65109 |
300298 |
UPF3 |
YGR072W |
UP Frameshift |
DiOPT |
PANTHER|OrthoFinder |
2 |
9 |
Yes |
Yes
|
| DYSTONIA 9; DYT9 |
601042 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| DYSTONIA 9; DYT9 |
601042 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| DYSTONIA 9; DYT9 |
601042 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| DYSTONIA 9; DYT9 |
601042 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 |
614847 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 |
614847 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 |
614847 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 |
614847 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 |
606777 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 |
606777 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 |
606777 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 |
606777 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 |
612126 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 |
612126 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
138140 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 |
612126 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VPS73 |
YGL104C |
Vacuolar Protein Sorting |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 |
612126 |
SLC2A1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 |
143090 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
SLC2A2 |
solute carrier family 2 (facilitated glucose transporter), member 2 |
6514 |
138160 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| FANCONI-BICKEL SYNDROME; FBS |
227810 |
SLC2A2 |
solute carrier family 2 (facilitated glucose transporter), member 2 |
6514 |
138160 |
VVS1 |
YBR241C |
Vacuolar protein Vital for Stress response |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| CYSTINURIA |
220100 |
SLC3A1 |
solute carrier family 3 (amino acid transporter heavy chain), member 1 |
6519 |
104614 |
IMA1 |
YGR287C |
IsoMAltase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CYSTINURIA |
220100 |
SLC3A1 |
solute carrier family 3 (amino acid transporter heavy chain), member 1 |
6519 |
104614 |
IMA2 |
YOL157C |
IsoMAltase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CYSTINURIA |
220100 |
SLC3A1 |
solute carrier family 3 (amino acid transporter heavy chain), member 1 |
6519 |
104614 |
IMA3 |
YIL172C |
IsoMAltase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CYSTINURIA |
220100 |
SLC3A1 |
solute carrier family 3 (amino acid transporter heavy chain), member 1 |
6519 |
104614 |
IMA4 |
YJL221C |
IsoMAltase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CYSTINURIA |
220100 |
SLC3A1 |
solute carrier family 3 (amino acid transporter heavy chain), member 1 |
6519 |
104614 |
IMA5 |
YJL216C |
IsoMAltase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CYSTINURIA |
220100 |
SLC3A1 |
solute carrier family 3 (amino acid transporter heavy chain), member 1 |
6519 |
104614 |
MAL12 |
YGR292W |
MALtose fermentation |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CYSTINURIA |
220100 |
SLC3A1 |
solute carrier family 3 (amino acid transporter heavy chain), member 1 |
6519 |
104614 |
MAL32 |
YBR299W |
MALtose |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| BLOOD GROUP--DIEGO SYSTEM; DI |
110500 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| BLOOD GROUP--FROESE |
601551 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| BLOOD GROUP--SWANN SYSTEM; SW |
601550 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| BLOOD GROUP--WALDNER TYPE; WD |
112010 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| BLOOD GROUP--WRIGHT ANTIGEN; WR |
112050 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| MALARIA, SUSCEPTIBILITY TO MALARIA, RESISTANCE TO, INCLUDED |
611162 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT |
179800 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA |
611590 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| SPHEROCYTOSIS, TYPE 4; SPH4 |
612653 |
SLC4A1 |
solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
6521 |
109270 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| THYROID DYSHORMONOGENESIS 1; TDH1 |
274400 |
SLC5A5 |
solute carrier family 5 (sodium/iodide cotransporter), member 5 |
6528 |
601843 |
DUR3 |
YHL016C |
Degradation of URea |
DiOPT |
Ensembl Compara|OMA|InParanoid |
3 |
9 |
Yes |
Yes
|
| BURULI ULCER, SUSCEPTIBILITY TO |
610446 |
SLC11A1 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 |
6556 |
600266 |
SMF1 |
YOL122C |
Suppressor of Mitochondria import Function |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| BURULI ULCER, SUSCEPTIBILITY TO |
610446 |
SLC11A1 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 |
6556 |
600266 |
SMF2 |
YHR050W |
Suppressor of Mitochondria import Function |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| BURULI ULCER, SUSCEPTIBILITY TO |
610446 |
SLC11A1 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 |
6556 |
600266 |
SMF3 |
YLR034C |
|
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED |
607948 |
SLC11A1 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 |
6556 |
600266 |
SMF1 |
YOL122C |
Suppressor of Mitochondria import Function |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED |
607948 |
SLC11A1 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 |
6556 |
600266 |
SMF2 |
YHR050W |
Suppressor of Mitochondria import Function |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED |
607948 |
SLC11A1 |
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 |
6556 |
600266 |
SMF3 |
YLR034C |
|
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
Yes
|
| ERYTHROCYTE LACTATE TRANSPORTER DEFECT |
245340 |
SLC16A1 |
solute carrier family 16 (monocarboxylate transporter), member 1 |
6566 |
600682 |
ESBP6 |
YNL125C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 |
610021 |
SLC16A1 |
solute carrier family 16 (monocarboxylate transporter), member 1 |
6566 |
600682 |
ESBP6 |
YNL125C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D |
616095 |
SLC16A1 |
solute carrier family 16 (monocarboxylate transporter), member 1 |
6566 |
600682 |
ESBP6 |
YNL125C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ALLAN-HERNDON-DUDLEY SYNDROME; AHDS |
300523 |
SLC16A2 |
solute carrier family 16, member 2 (thyroid hormone transporter) |
6567 |
300095 |
MCH4 |
YOL119C |
MonoCarboxylate transporter Homolog |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| ALLAN-HERNDON-DUDLEY SYNDROME; AHDS |
300523 |
SLC16A2 |
solute carrier family 16, member 2 (thyroid hormone transporter) |
6567 |
300095 |
MCH5 |
YOR306C |
MonoCarboxylate transporter Homolog |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 |
213600 |
SLC20A2 |
solute carrier family 20 (phosphate transporter), member 2 |
6575 |
158378 |
PHO89 |
YBR296C |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD |
615182 |
SLC25A1 |
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 |
6576 |
190315 |
CTP1 |
YBR291C |
Citrate Transport Protein |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD |
615182 |
SLC25A1 |
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 |
6576 |
190315 |
MRX20 |
YFR045W |
Mitochondrial oRganization of gene eXpression (MIOREX) |
DiOPT |
Ensembl Compara|PhylomeDB|PANTHER |
3 |
9 |
No |
Yes
|
| RHEUMATOID ARTHRITIS; RA |
180300 |
SLC22A4 |
solute carrier family 22 (organic cation/zwitterion transporter), member 4 |
6583 |
604190 |
GIT1 |
YCR098C |
GlycerophosphoInosiTol |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
212140 |
SLC22A5 |
solute carrier family 22 (organic cation/carnitine transporter), member 5 |
6584 |
603377 |
GIT1 |
YCR098C |
GlycerophosphoInosiTol |
DiOPT |
Ensembl Compara|Hieranoid |
2 |
9 |
Yes |
Yes
|
| PIEBALD TRAIT; PBT |
172800 |
SNAI2 |
snail family zinc finger 2 |
6591 |
602150 |
CRZ1 |
YNL027W |
Calcineurin-Responsive Zinc finger |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| WAARDENBURG SYNDROME, TYPE 2D; WS2D |
608890 |
SNAI2 |
snail family zinc finger 2 |
6591 |
602150 |
CRZ1 |
YNL027W |
Calcineurin-Responsive Zinc finger |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| NICOLAIDES-BARAITSER SYNDROME; NCBRS |
601358 |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
6595 |
600014 |
SNF2 |
YOR290C |
Sucrose NonFermenting |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| NICOLAIDES-BARAITSER SYNDROME; NCBRS |
601358 |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
6595 |
600014 |
STH1 |
YIL126W |
SNF Two Homolog |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16 |
614609 |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
6597 |
603254 |
SNF2 |
YOR290C |
Sucrose NonFermenting |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16 |
614609 |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
6597 |
603254 |
STH1 |
YIL126W |
SNF Two Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2 |
613325 |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
6597 |
603254 |
SNF2 |
YOR290C |
Sucrose NonFermenting |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
No |
Yes
|
| RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2 |
613325 |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
6597 |
603254 |
STH1 |
YIL126W |
SNF Two Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15 |
614608 |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
6598 |
601607 |
SFH1 |
YLR321C |
Snf Five Homolog |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15 |
614608 |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
6598 |
601607 |
SNF5 |
YBR289W |
Sucrose NonFermenting |
DiOPT |
Ensembl Compara|OrthoFinder|SonicParanoid |
3 |
9 |
No |
Yes
|
| RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 |
609322 |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
6598 |
601607 |
SFH1 |
YLR321C |
Snf Five Homolog |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 |
609322 |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
6598 |
601607 |
SNF5 |
YBR289W |
Sucrose NonFermenting |
DiOPT |
Ensembl Compara|OrthoFinder|SonicParanoid |
3 |
9 |
No |
Yes
|
| SCHWANNOMATOSIS 1; SWNTS1 |
162091 |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
6598 |
601607 |
SFH1 |
YLR321C |
Snf Five Homolog |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| SCHWANNOMATOSIS 1; SWNTS1 |
162091 |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
6598 |
601607 |
SNF5 |
YBR289W |
Sucrose NonFermenting |
DiOPT |
Ensembl Compara|OrthoFinder|SonicParanoid |
3 |
9 |
No |
Yes
|
| NIEMANN-PICK DISEASE, TYPE A |
257200 |
SMPD1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
6609 |
607608 |
PPN1 |
YDR452W |
|
DiOPT |
Ensembl Compara|OrthoInspector|SonicParanoid |
3 |
9 |
Yes |
No
|
| NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE E, INCLUDED |
607616 |
SMPD1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
6609 |
607608 |
PPN1 |
YDR452W |
|
DiOPT |
Ensembl Compara|OrthoInspector|SonicParanoid |
3 |
9 |
Yes |
No
|
| MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18 |
616330 |
SNAP25 |
synaptosomal-associated protein, 25kDa |
6616 |
600322 |
SEC9 |
YGR009C |
SECretory |
DiOPT |
Ensembl Compara|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| CEREBROCOSTOMANDIBULAR SYNDROME; CCMS |
117650 |
SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
6628 |
182282 |
SMB1 |
YER029C |
SmB/B' homolog |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| HYPOTRICHOSIS 11; HYPT11 |
615059 |
SNRPE |
small nuclear ribonucleoprotein polypeptide E |
6635 |
128260 |
SME1 |
YOR159C |
Sm protein E |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PRADER-WILLI SYNDROME; PWS |
176270 |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
6638 |
182279 |
SMB1 |
YER029C |
SmB/B' homolog |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |
105400 |
SOD1 |
superoxide dismutase 1, soluble |
6647 |
147450 |
SOD1 |
YJR104C |
SuperOxide Dismutase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6 |
612634 |
SOD2 |
superoxide dismutase 2, mitochondrial |
6648 |
147460 |
SOD2 |
YHR008C |
SuperOxide Dismutase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| ALZHEIMER DISEASE; AD |
104300 |
SORL1 |
sortilin-related receptor, L(DLR class) A repeats containing |
6653 |
602005 |
PEP1 |
YBL017C |
carboxyPEPtidase Y-deficient |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
Yes
|
| ALZHEIMER DISEASE; AD |
104300 |
SORL1 |
sortilin-related receptor, L(DLR class) A repeats containing |
6653 |
602005 |
VTH1 |
YIL173W |
Vps Ten Homolog |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
No |
Yes
|
| ALZHEIMER DISEASE; AD |
104300 |
SORL1 |
sortilin-related receptor, L(DLR class) A repeats containing |
6653 |
602005 |
VTH2 |
YJL222W |
Vps Ten Homolog |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
No |
Yes
|
| ALZHEIMER DISEASE; AD |
104300 |
SORL1 |
sortilin-related receptor, L(DLR class) A repeats containing |
6653 |
602005 |
|
YCR099C |
|
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder |
3 |
9 |
No |
Yes
|
| ALZHEIMER DISEASE; AD |
104300 |
SORL1 |
sortilin-related receptor, L(DLR class) A repeats containing |
6653 |
602005 |
|
YNR065C |
|
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER |
5 |
9 |
Yes |
Yes
|
| FIBROMATOSIS, GINGIVAL, 1; GINGF1 |
135300 |
SOS1 |
son of sevenless homolog 1 (Drosophila) |
6654 |
182530 |
CDC25 |
YLR310C |
Cell Division Cycle |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
Yes
|
| NOONAN SYNDROME 4; NS4 |
610733 |
SOS1 |
son of sevenless homolog 1 (Drosophila) |
6654 |
182530 |
CDC25 |
YLR310C |
Cell Division Cycle |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
Yes
|
| NOONAN SYNDROME 9; NS9 |
616559 |
SOS2 |
son of sevenless homolog 2 (Drosophila) |
6655 |
601247 |
CDC25 |
YLR310C |
Cell Division Cycle |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 |
182601 |
SPAST |
spastin |
6683 |
604277 |
SAP1 |
YER047C |
Sin1 Associated Protein |
DiOPT |
SonicParanoid|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 |
182601 |
SPAST |
spastin |
6683 |
604277 |
YTA6 |
YPL074W |
Yeast Tat-binding Analog |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| BISPHOSPHOGLYCERATE MUTASE DEFICIENCY |
222800 |
BPGM |
2,3-bisphosphoglycerate mutase |
669 |
613896 |
GPM1 |
YKL152C |
Glycerate PhosphoMutase |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PhylomeDB|InParanoid |
5 |
9 |
Yes |
No
|
| BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 |
235555 |
AKR1D1 |
aldo-keto reductase family 1, member D1 |
6718 |
604741 |
GCY1 |
YOR120W |
Galactose-inducible Crystallin-like Yeast protein |
DiOPT |
SonicParanoid|OrthoInspector|Ensembl Compara|InParanoid |
4 |
9 |
Yes |
No
|
| BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 |
235555 |
AKR1D1 |
aldo-keto reductase family 1, member D1 |
6718 |
604741 |
YPR1 |
YDR368W |
Yeast Putative Reductase |
DiOPT |
Ensembl Compara|OrthoInspector|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| BONE MARROW FAILURE SYNDROME 1; BMFS1 |
614675 |
SRP72 |
signal recognition particle 72kDa |
6731 |
602122 |
SRP72 |
YPL210C |
Signal Recognition Particle |
DiOPT |
OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR |
614457 |
ELOVL4 |
ELOVL fatty acid elongase 4 |
6785 |
605512 |
ELO3 |
YLR372W |
fatty acid ELOngation |
DiOPT |
Ensembl Compara|OrthoInspector|OMA|InParanoid |
4 |
9 |
Yes |
Yes
|
| SPINOCEREBELLAR ATAXIA 34; SCA34 |
133190 |
ELOVL4 |
ELOVL fatty acid elongase 4 |
6785 |
605512 |
ELO3 |
YLR372W |
fatty acid ELOngation |
DiOPT |
Ensembl Compara|OrthoInspector|OMA|InParanoid |
4 |
9 |
Yes |
Yes
|
| STARGARDT DISEASE 3; STGD3 |
600110 |
ELOVL4 |
ELOVL fatty acid elongase 4 |
6785 |
605512 |
ELO3 |
YLR372W |
fatty acid ELOngation |
DiOPT |
Ensembl Compara|OrthoInspector|OMA|InParanoid |
4 |
9 |
Yes |
Yes
|
| COLORECTAL CANCER; CRC |
114500 |
AURKA |
aurora kinase A |
6790 |
603072 |
IPL1 |
YPL209C |
Increase in PLoidy |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPERMATOGENIC FAILURE 5; SPGF5 |
243060 |
AURKC |
aurora kinase C |
6795 |
603495 |
IPL1 |
YPL209C |
Increase in PLoidy |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 |
612164 |
STXBP1 |
syntaxin binding protein 1 |
6812 |
602926 |
SEC1 |
YDR164C |
SECretory |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 |
613101 |
STXBP2 |
syntaxin binding protein 2 |
6813 |
601717 |
SEC1 |
YDR164C |
SECretory |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
125853 |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
6833 |
600509 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, PERMANENT NEONATAL; PNDM |
606176 |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
6833 |
600509 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| DIABETES MELLITUS, TRANSIENT NEONATAL, 2 |
610374 |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
6833 |
600509 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 |
256450 |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
6833 |
600509 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| HYPOGLYCEMIA, LEUCINE-INDUCED; LIH |
240800 |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
6833 |
600509 |
YBT1 |
YLL048C |
Yeast Bile Transporter |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| LEIGH SYNDROME; LS |
256000 |
SURF1 |
surfeit 1 |
6834 |
185620 |
SHY1 |
YGR112W |
SURF Homolog of Yeast |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 |
108600 |
VAMP1 |
vesicle associated membrane protein 1 |
6843 |
185880 |
SNC1 |
YAL030W |
Suppressor of the Null allele of CAP |
DiOPT |
OrthoInspector|InParanoid|PANTHER |
3 |
9 |
Yes |
No
|
| SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 |
108600 |
VAMP1 |
vesicle associated membrane protein 1 |
6843 |
185880 |
SNC2 |
YOR327C |
Suppressor of the Null allele of CAP |
DiOPT |
OrthoInspector|InParanoid|PANTHER |
3 |
9 |
Yes |
No
|
| DYSTONIA 3, TORSION, X-LINKED; DYT3 |
314250 |
TAF1 |
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa |
6872 |
313650 |
TAF1 |
YGR274C |
TATA binding protein-Associated Factor |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40 |
615599 |
TAF2 |
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa |
6873 |
604912 |
TAF2 |
YCR042C |
TATA binding protein-Associated Factor |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| SPERMATOGENIC FAILURE 13; SPGF13 |
615841 |
TAF4B |
TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa |
6875 |
601689 |
TAF4 |
YMR005W |
TATA binding protein-Associated Factor |
DiOPT |
Ensembl Compara|PhylomeDB|PANTHER |
3 |
9 |
Yes |
Yes
|
| TRANSALDOLASE DEFICIENCY |
606003 |
TALDO1 |
transaldolase 1 |
6888 |
602063 |
NQM1 |
YGR043C |
Non-Quiescent Mutant |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| TRANSALDOLASE DEFICIENCY |
606003 |
TALDO1 |
transaldolase 1 |
6888 |
602063 |
TAL1 |
YLR354C |
TransALdolase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| BARTH SYNDROME; BTHS |
302060 |
TAZ |
tafazzin |
6901 |
300394 |
TAZ1 |
YPR140W |
TAfaZzin |
DiOPT |
OrthoInspector|OrthoFinder|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD |
241410 |
TBCE |
tubulin folding cofactor E |
6905 |
604934 |
PAC2 |
YER007W |
Perish in the Absence of Cin8p |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 |
244460 |
TBCE |
tubulin folding cofactor E |
6905 |
604934 |
PAC2 |
YER007W |
Perish in the Absence of Cin8p |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE, LATE-ONSET; PD |
168600 |
TBP |
TATA box binding protein |
6908 |
600075 |
SPT15 |
YER148W |
SuPpressor of Ty insertions |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| SPINOCEREBELLAR ATAXIA 17; SCA17 |
607136 |
TBP |
TATA box binding protein |
6908 |
600075 |
SPT15 |
YER148W |
SuPpressor of Ty insertions |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
No
|
| ATRIAL SEPTAL DEFECT 5; ASD5 |
612794 |
ACTC1 |
actin, alpha, cardiac muscle 1 |
70 |
102540 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| CARDIOMYOPATHY, DILATED, 1R; CMD1R LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED; LVNC4, INCLUDED |
613424 |
ACTC1 |
actin, alpha, cardiac muscle 1 |
70 |
102540 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11 |
612098 |
ACTC1 |
actin, alpha, cardiac muscle 1 |
70 |
102540 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| SVEINSSON CHORIORETINAL ATROPHY; SCRA |
108985 |
TEAD1 |
TEA domain family member 1 (SV40 transcriptional enhancer factor) |
7003 |
189967 |
TEC1 |
YBR083W |
Transposon Enhancement Control |
DiOPT |
OrthoInspector|PANTHER|OrthoFinder |
3 |
9 |
Yes |
No
|
| COLORECTAL CANCER; CRC |
114500 |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
701 |
602860 |
BUB1 |
YGR188C |
Budding Uninhibited by Benzimidazole |
DiOPT |
OrthoInspector|OMA|PANTHER|OrthoFinder |
4 |
9 |
Yes |
No
|
| COLORECTAL CANCER; CRC |
114500 |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
701 |
602860 |
MAD3 |
YJL013C |
Mitotic Arrest-Deficient |
DiOPT |
OrthoInspector|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 |
257300 |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
701 |
602860 |
BUB1 |
YGR188C |
Budding Uninhibited by Benzimidazole |
DiOPT |
OrthoInspector|OMA|PANTHER|OrthoFinder |
4 |
9 |
Yes |
No
|
| MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 |
257300 |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
701 |
602860 |
MAD3 |
YJL013C |
Mitotic Arrest-Deficient |
DiOPT |
OrthoInspector|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PREMATURE CHROMATID SEPARATION TRAIT; PCS |
176430 |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
701 |
602860 |
BUB1 |
YGR188C |
Budding Uninhibited by Benzimidazole |
DiOPT |
OrthoInspector|OMA|PANTHER|OrthoFinder |
4 |
9 |
Yes |
No
|
| PREMATURE CHROMATID SEPARATION TRAIT; PCS |
176430 |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
701 |
602860 |
MAD3 |
YJL013C |
Mitotic Arrest-Deficient |
DiOPT |
OrthoInspector|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED |
613989 |
TERT |
telomerase reverse transcriptase |
7015 |
187270 |
EST2 |
YLR318W |
Ever Shorter Telomeres |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| LEUKEMIA, ACUTE MYELOID; AML |
601626 |
TERT |
telomerase reverse transcriptase |
7015 |
187270 |
EST2 |
YLR318W |
Ever Shorter Telomeres |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9 |
615134 |
TERT |
telomerase reverse transcriptase |
7015 |
187270 |
EST2 |
YLR318W |
Ever Shorter Telomeres |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 |
614742 |
TERT |
telomerase reverse transcriptase |
7015 |
187270 |
EST2 |
YLR318W |
Ever Shorter Telomeres |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1 |
300854 |
TFE3 |
transcription factor binding to IGHM enhancer 3 |
7030 |
314310 |
RTG3 |
YBL103C |
ReTroGrade regulation |
DiOPT |
Ensembl Compara|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| HEMOCHROMATOSIS, TYPE 3; HFE3 |
604250 |
TFR2 |
transferrin receptor 2 |
7036 |
604720 |
TRE1 |
YPL176C |
Transferrin REceptor like |
DiOPT |
SonicParanoid|PANTHER|Ensembl Compara|OrthoFinder |
4 |
9 |
Yes |
No
|
| HEMOCHROMATOSIS, TYPE 3; HFE3 |
604250 |
TFR2 |
transferrin receptor 2 |
7036 |
604720 |
TRE2 |
YOR256C |
Transferrrin REceptor like |
DiOPT |
Ensembl Compara|PANTHER|OrthoFinder|SonicParanoid |
4 |
9 |
Yes |
No
|
| HEMOCHROMATOSIS, TYPE 3; HFE3 |
604250 |
TFR2 |
transferrin receptor 2 |
7036 |
604720 |
VPS70 |
YJR126C |
Vacuolar Protein Sorting |
DiOPT |
Ensembl Compara|OrthoInspector|SonicParanoid|PANTHER |
4 |
9 |
Yes |
No
|
| CORNEAL DYSTROPHY, AVELLINO TYPE; CDA |
607541 |
TGFBI |
transforming growth factor, beta-induced, 68kDa |
7045 |
601692 |
|
YLR001C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD |
121820 |
TGFBI |
transforming growth factor, beta-induced, 68kDa |
7045 |
601692 |
|
YLR001C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1 |
121900 |
TGFBI |
transforming growth factor, beta-induced, 68kDa |
7045 |
601692 |
|
YLR001C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A |
608471 |
TGFBI |
transforming growth factor, beta-induced, 68kDa |
7045 |
601692 |
|
YLR001C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1 |
122200 |
TGFBI |
transforming growth factor, beta-induced, 68kDa |
7045 |
601692 |
|
YLR001C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; CDRB |
608470 |
TGFBI |
transforming growth factor, beta-induced, 68kDa |
7045 |
601692 |
|
YLR001C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE; CDTB |
602082 |
TGFBI |
transforming growth factor, beta-induced, 68kDa |
7045 |
601692 |
|
YLR001C |
|
DiOPT |
SonicParanoid|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| HOLOPROSENCEPHALY 4; HPE4 |
142946 |
TGIF1 |
TGFB-induced factor homeobox 1 |
7050 |
602630 |
CUP9 |
YPL177C |
|
DiOPT |
OrthoInspector|PANTHER|OrthoFinder |
3 |
9 |
Yes |
No
|
| HOLOPROSENCEPHALY 4; HPE4 |
142946 |
TGIF1 |
TGFB-induced factor homeobox 1 |
7050 |
602630 |
TOS8 |
YGL096W |
Target Of Sbf |
DiOPT |
OrthoInspector|PANTHER|OrthoFinder |
3 |
9 |
Yes |
No
|
| WELANDER DISTAL MYOPATHY; WDM |
604454 |
TIA1 |
TIA1 cytotoxic granule-associated RNA binding protein |
7072 |
603518 |
PUB1 |
YNL016W |
PolyUridylate Binding |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid |
5 |
9 |
Yes |
Yes
|
| BARAITSER-WINTER SYNDROME 2; BRWS2 |
614583 |
ACTG1 |
actin gamma 1 |
71 |
102560 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 |
604717 |
ACTG1 |
actin gamma 1 |
71 |
102560 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID |
615512 |
TPI1 |
triosephosphate isomerase 1 |
7167 |
190450 |
TPI1 |
YDR050C |
Triose-Phosphate Isomerase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, DILATED, 1Y; CMD1Y LEFT VENTRICULAR NONCOMPACTION 9, INCLUDED; LVNC9, INCLUDED |
611878 |
TPM1 |
tropomyosin 1 (alpha) |
7168 |
191010 |
TPM1 |
YNL079C |
TroPoMyosin |
DiOPT |
OMA|PANTHER |
2 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 |
115196 |
TPM1 |
tropomyosin 1 (alpha) |
7168 |
191010 |
TPM1 |
YNL079C |
TroPoMyosin |
DiOPT |
OMA|PANTHER |
2 |
9 |
Yes |
Yes
|
| ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A |
108120 |
TPM2 |
tropomyosin 2 (beta) |
7169 |
190990 |
TPM1 |
YNL079C |
TroPoMyosin |
DiOPT |
OMA|PANTHER |
2 |
9 |
Yes |
Yes
|
| ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B |
601680 |
TPM2 |
tropomyosin 2 (beta) |
7169 |
190990 |
TPM1 |
YNL079C |
TroPoMyosin |
DiOPT |
OMA|PANTHER |
2 |
9 |
Yes |
Yes
|
| NEMALINE MYOPATHY 4; NEM4 CAP MYOPATHY 2, INCLUDED; CAPM2, INCLUDED |
609285 |
TPM2 |
tropomyosin 2 (beta) |
7169 |
190990 |
TPM1 |
YNL079C |
TroPoMyosin |
DiOPT |
OMA|PANTHER |
2 |
9 |
Yes |
Yes
|
| MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
255310 |
TPM3 |
tropomyosin 3 |
7170 |
191030 |
TPM1 |
YNL079C |
TroPoMyosin |
DiOPT |
OMA|PANTHER |
2 |
9 |
Yes |
Yes
|
| NEMALINE MYOPATHY 1; NEM1 CAP MYOPATHY 1, INCLUDED; CAPM1, INCLUDED |
609284 |
TPM3 |
tropomyosin 3 |
7170 |
191030 |
TPM1 |
YNL079C |
TroPoMyosin |
DiOPT |
OMA|PANTHER |
2 |
9 |
Yes |
Yes
|
| VISCERAL MYOPATHY; VSCM |
155310 |
ACTG2 |
actin, gamma 2, smooth muscle, enteric |
72 |
102545 |
ACT1 |
YFL039C |
ACTin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|InParanoid |
7 |
9 |
Yes |
No
|
| BREAST CANCER |
114480 |
TSG101 |
tumor susceptibility 101 |
7251 |
601387 |
STP22 |
YCL008C |
STerile Pseudoreversion |
DiOPT |
OrthoInspector|OMA|OrthoFinder|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT |
608800 |
TSPYL1 |
TSPY-like 1 |
7259 |
604714 |
VPS75 |
YNL246W |
Vacuolar Protein Sorting |
DiOPT |
Ensembl Compara|PANTHER|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22 |
616208 |
TUBA4A |
tubulin, alpha 4a |
7277 |
191110 |
TUB1 |
YML085C |
TUBulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22 |
616208 |
TUBA4A |
tubulin, alpha 4a |
7277 |
191110 |
TUB3 |
YML124C |
TUBulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5 |
615763 |
TUBB2A |
tubulin, beta 2A class IIa |
7280 |
615101 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 |
600721 |
D2HGDH |
D-2-hydroxyglutarate dehydrogenase |
728294 |
609186 |
DLD2 |
YDL178W |
D-Lactate Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 |
600721 |
D2HGDH |
D-2-hydroxyglutarate dehydrogenase |
728294 |
609186 |
DLD3 |
YEL071W |
D-Lactate Dehydrogenase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
No |
Yes
|
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4 |
615412 |
TUBG1 |
tubulin, gamma 1 |
7283 |
191135 |
TUB4 |
YLR212C |
TUBulin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4 |
610678 |
TUFM |
Tu translation elongation factor, mitochondrial |
7284 |
602389 |
TUF1 |
YOR187W |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2 |
301830 |
UBA1 |
ubiquitin-like modifier activating enzyme 1 |
7317 |
314370 |
UBA1 |
YKL210W |
UBiquitin Activating |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN |
300860 |
UBE2A |
ubiquitin-conjugating enzyme E2A |
7319 |
312180 |
RAD6 |
YGL058W |
RADiation sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| OROFACIAL CLEFT 10; OFC10 |
613705 |
SUMO1 |
small ubiquitin-like modifier 1 |
7341 |
601912 |
SMT3 |
YDR510W |
Suppressor of Mif Two |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET; NDGOA |
615491 |
UCHL1 |
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
7345 |
191342 |
YUH1 |
YJR099W |
Yeast Ubiquitin Hydrolase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 |
613643 |
UCHL1 |
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
7345 |
191342 |
YUH1 |
YJR099W |
Yeast Ubiquitin Hydrolase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| OROTIC ACIDURIA |
258900 |
UMPS |
uridine monophosphate synthetase |
7372 |
613891 |
URA3 |
YEL021W |
URAcil requiring |
DiOPT |
OrthoInspector|Hieranoid|SonicParanoid|PhylomeDB|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 |
608106 |
UNG |
uracil DNA glycosylase |
7374 |
191525 |
UNG1 |
YML021C |
Uracil DNA N-Glycosylase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3 |
615158 |
UQCRB |
ubiquinol-cytochrome c reductase binding protein |
7381 |
191330 |
QCR7 |
YDR529C |
ubiQuinol-cytochrome C oxidoReductase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5 |
615160 |
UQCRC2 |
ubiquinol-cytochrome c reductase core protein II |
7385 |
191329 |
QCR2 |
YPR191W |
QH2:cytochrome-C oxidoReductase |
DiOPT |
Ensembl Compara|PhylomeDB|Hieranoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PORPHYRIA CUTANEA TARDA |
176100 |
UROD |
uroporphyrinogen decarboxylase |
7389 |
613521 |
HEM12 |
YDR047W |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
263700 |
UROS |
uroporphyrinogen III synthase |
7390 |
606938 |
HEM4 |
YOR278W |
HEMe biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| KABUKI SYNDROME 2; KABUK2 |
300867 |
KDM6A |
lysine (K)-specific demethylase 6A |
7403 |
300128 |
CYC8 |
YBR112C |
CYtochrome C |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|InParanoid |
5 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14 |
613954 |
VCP |
valosin containing protein |
7415 |
601023 |
CDC48 |
YDL126C |
Cell Division Cycle |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1 |
167320 |
VCP |
valosin containing protein |
7415 |
601023 |
CDC48 |
YDL126C |
Cell Division Cycle |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX |
300299 |
WAS |
Wiskott-Aldrich syndrome |
7454 |
300392 |
LAS17 |
YOR181W |
|
DiOPT |
Hieranoid|OMA|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| THROMBOCYTOPENIA 1; THC1 |
313900 |
WAS |
Wiskott-Aldrich syndrome |
7454 |
300392 |
LAS17 |
YOR181W |
|
DiOPT |
Hieranoid|OMA|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| WISKOTT-ALDRICH SYNDROME; WAS |
301000 |
WAS |
Wiskott-Aldrich syndrome |
7454 |
300392 |
LAS17 |
YOR181W |
|
DiOPT |
Hieranoid|OMA|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| WISKOTT-ALDRICH SYNDROME 2; WAS2 |
614493 |
WIPF1 |
WAS/WASL interacting protein family, member 1 |
7456 |
602357 |
VRP1 |
YLR337C |
VeRProlin |
DiOPT |
Ensembl Compara|InParanoid|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA |
278700 |
XPA |
xeroderma pigmentosum, complementation group A |
7507 |
611153 |
RAD14 |
YMR201C |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC |
278720 |
XPC |
xeroderma pigmentosum, complementation group C |
7508 |
613208 |
RAD4 |
YER162C |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO; AEACEI |
300909 |
XPNPEP2 |
X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound |
7512 |
300145 |
FRA1 |
YLL029W |
Fe Repressor of Activation |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| BREAST CANCER |
114480 |
XRCC3 |
X-ray repair complementing defective repair in Chinese hamster cells 3 |
7517 |
600675 |
RAD57 |
YDR004W |
RADiation sensitive |
DiOPT |
Ensembl Compara|PhylomeDB|InParanoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6 |
613972 |
XRCC3 |
X-ray repair complementing defective repair in Chinese hamster cells 3 |
7517 |
600675 |
RAD57 |
YDR004W |
RADiation sensitive |
DiOPT |
Ensembl Compara|PhylomeDB|InParanoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| MYOTONIC DYSTROPHY 2; DM2 |
602668 |
CNBP |
CCHC-type zinc finger, nucleic acid binding protein |
7555 |
116955 |
GIS2 |
YNL255C |
GIg Suppressor |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6 |
615226 |
ZNF141 |
zinc finger protein 141 |
7700 |
194648 |
ZAP1 |
YJL056C |
Zinc-responsive Activator Protein |
DiOPT |
SonicParanoid|Hieranoid|InParanoid |
3 |
9 |
Yes |
Yes
|
| EPISODIC ATAXIA, TYPE 2; EA2 |
108500 |
CACNA1A |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
773 |
601011 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|PANTHER|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 |
141500 |
CACNA1A |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
773 |
601011 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|PANTHER|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| SPINOCEREBELLAR ATAXIA 6; SCA6 |
183086 |
CACNA1A |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
773 |
601011 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|PANTHER|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5 |
300953 |
RNF113A |
ring finger protein 113A |
7737 |
300951 |
CWC24 |
YLR323C |
Complexed With Cef1p |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| DYSTONIA 23; DYT23 |
614860 |
CACNA1B |
calcium channel, voltage-dependent, N type, alpha 1B subunit |
774 |
601012 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
Hieranoid|PANTHER|InParanoid|OrthoFinder |
4 |
9 |
Yes |
No
|
| BRUGADA SYNDROME 3; BRGDA3 |
611875 |
CACNA1C |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
775 |
114205 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| TIMOTHY SYNDROME; TS |
601005 |
CACNA1C |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
775 |
114205 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA |
615474 |
CACNA1D |
calcium channel, voltage-dependent, L type, alpha 1D subunit |
776 |
114206 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD |
614896 |
CACNA1D |
calcium channel, voltage-dependent, L type, alpha 1D subunit |
776 |
114206 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| ALAND ISLAND EYE DISEASE; AIED |
300600 |
CACNA1F |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
778 |
300110 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 |
300476 |
CACNA1F |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
778 |
300110 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A |
300071 |
CACNA1F |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
778 |
300110 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 |
170400 |
CACNA1S |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
779 |
114208 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 |
601887 |
CACNA1S |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
779 |
114208 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1 |
188580 |
CACNA1S |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
779 |
114208 |
CCH1 |
YGR217W |
Calcium Channel Homolog |
DiOPT |
OMA|OrthoFinder|Hieranoid|PANTHER|InParanoid |
5 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B |
606056 |
MOGS |
mannosyl-oligosaccharide glucosidase |
7841 |
601336 |
CWH41 |
YGL027C |
Calcofluor White Hypersensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LISSENCEPHALY 3; LIS3 |
611603 |
TUBA1A |
tubulin, alpha 1a |
7846 |
602529 |
TUB1 |
YML085C |
TUBulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| LISSENCEPHALY 3; LIS3 |
611603 |
TUBA1A |
tubulin, alpha 1a |
7846 |
602529 |
TUB3 |
YML124C |
TUBulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B |
600882 |
RAB7A |
RAB7A, member RAS oncogene family |
7879 |
602298 |
YPT7 |
YML001W |
Yeast Protein Two |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD |
212138 |
SLC25A20 |
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 |
788 |
613698 |
CRC1 |
YOR100C |
CaRnitine Carrier |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz; CDG1Z |
616457 |
CAD |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
790 |
114010 |
URA2 |
YJL130C |
URAcil requiring |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C |
612390 |
TSEN34 |
TSEN34 tRNA splicing endonuclease subunit |
79042 |
608754 |
SEN34 |
YAR008W |
Splicing ENdonuclease |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H |
608104 |
ALG8 |
ALG8, alpha-1,3-glucosyltransferase |
79053 |
608103 |
ALG8 |
YOR067C |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ALVEOLAR SOFT PART SARCOMA; ASPS |
606243 |
ASPSCR1 |
alveolar soft part sarcoma chromosome region, candidate 1 |
79058 |
606236 |
UBX4 |
YMR067C |
UBiquitin regulatory X |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G |
607143 |
ALG12 |
ALG12, alpha-1,6-mannosyltransferase |
79087 |
607144 |
ALG12 |
YNR030W |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD |
271980 |
ALDH5A1 |
aldehyde dehydrogenase 5 family, member A1 |
7915 |
610045 |
UGA2 |
YBR006W |
Utilization of GAba |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35 |
612319 |
FA2H |
fatty acid 2-hydroxylase |
79152 |
611026 |
SCS7 |
YMR272C |
Suppressor of Ca2+ Sensitivity |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERPARATHYROIDISM 1; HRPT1 |
145000 |
CDC73 |
cell division cycle 73 |
79577 |
607393 |
CDC73 |
YLR418C |
Cell Division Cycle |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| HYPERPARATHYROIDISM 2; HRPT2 |
145001 |
CDC73 |
cell division cycle 73 |
79577 |
607393 |
CDC73 |
YLR418C |
Cell Division Cycle |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| PARATHYROID CARCINOMA |
608266 |
CDC73 |
cell division cycle 73 |
79577 |
607393 |
CDC73 |
YLR418C |
Cell Division Cycle |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q |
612379 |
SRD5A3 |
steroid 5 alpha-reductase 3 |
79644 |
611715 |
DFG10 |
YIL049W |
Defective for Filamentous Growth |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| KAHRIZI SYNDROME; KHRZ |
612713 |
SRD5A3 |
steroid 5 alpha-reductase 3 |
79644 |
611715 |
DFG10 |
YIL049W |
Defective for Filamentous Growth |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| POIKILODERMA WITH NEUTROPENIA; PN |
604173 |
USB1 |
U6 snRNA biogenesis 1 |
79650 |
613276 |
USB1 |
YLR132C |
U Six Biogenesis |
DiOPT |
OrthoFinder|PANTHER |
2 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24 |
616239 |
NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial (putative) |
79731 |
612803 |
SLM5 |
YCR024C |
Synthetic Lethal with Mss4 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED |
614501 |
SNIP1 |
Smad nuclear interacting protein 1 |
79753 |
608241 |
PML1 |
YLR016C |
Pre-mRNA Leakage |
DiOPT |
Hieranoid|OrthoInspector|Ensembl Compara|PANTHER |
4 |
9 |
Yes |
Yes
|
| DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A |
600652 |
MYH14 |
myosin, heavy chain 14, non-muscle |
79784 |
608568 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH |
614369 |
MYH14 |
myosin, heavy chain 14, non-muscle |
79784 |
608568 |
MYO1 |
YHR023W |
MYOsin |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L |
608776 |
ALG9 |
ALG9, alpha-1,2-mannosyltransferase |
79796 |
606941 |
ALG9 |
YNL219C |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is; CDG1S |
300884 |
ALG13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
79868 |
300776 |
ALG13 |
YGL047W |
Asparagine-Linked Glycosylation |
DiOPT |
PhylomeDB|OrthoFinder |
2 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 |
611093 |
TUSC3 |
tumor suppressor candidate 3 |
7991 |
601385 |
OST3 |
YOR085W |
OligoSaccharylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| NEPHROTIC SYNDROME, TYPE 9; NPHS9 |
615573 |
ADCK4 |
aarF domain containing kinase 4 |
79934 |
615567 |
COQ8 |
YGL119W |
COenzyme Q |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 59; RP59 |
613861 |
DHDDS |
dehydrodolichyl diphosphate synthase subunit |
79947 |
608172 |
RER2 |
YBR002C |
Retention in the Endoplasmic Reticulum |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 59; RP59 |
613861 |
DHDDS |
dehydrodolichyl diphosphate synthase subunit |
79947 |
608172 |
SRT1 |
YMR101C |
Suppressor of Rer-Two |
DiOPT |
OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
No |
Yes
|
| HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION |
607236 |
PANK2 |
pantothenate kinase 2 |
80025 |
606157 |
CAB1 |
YDR531W |
Coenzyme A Biosynthesis |
DiOPT |
Hieranoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 |
234200 |
PANK2 |
pantothenate kinase 2 |
80025 |
606157 |
CAB1 |
YDR531W |
Coenzyme A Biosynthesis |
DiOPT |
Hieranoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
No
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 |
615802 |
PGAP1 |
post-GPI attachment to proteins 1 |
80055 |
611655 |
BST1 |
YFL025C |
Bypass of Sec Thirteen |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| LONG QT SYNDROME 14; LQT14 |
616247 |
CALM1 |
calmodulin 1 (phosphorylase kinase, delta) |
801 |
114180 |
CMD1 |
YBR109C |
CalMoDulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4 |
614916 |
CALM1 |
calmodulin 1 (phosphorylase kinase, delta) |
801 |
114180 |
CMD1 |
YBR109C |
CalMoDulin |
DiOPT |
OrthoInspector|OMA|SonicParanoid|Hieranoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD |
601331 |
BICC1 |
BicC family RNA binding protein 1 |
80114 |
614295 |
|
YLL032C |
|
DiOPT |
Hieranoid|PANTHER |
2 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50; MRT50 |
616460 |
EDC3 |
enhancer of mRNA decapping 3 |
80153 |
609842 |
EDC3 |
YEL015W |
Enhancer of mRNA DeCapping |
DiOPT |
Ensembl Compara|PANTHER|SonicParanoid|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21 |
615918 |
TARS2 |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
80222 |
612805 |
THS1 |
YIL078W |
THreonyl tRNA Synthetase |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
No
|
| MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1 |
600462 |
PUS1 |
pseudouridylate synthase 1 |
80324 |
608109 |
PUS1 |
YPL212C |
PseudoUridine Synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1 |
600462 |
PUS1 |
pseudouridylate synthase 1 |
80324 |
608109 |
PUS2 |
YGL063W |
PseudoUridine Synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER |
6 |
9 |
No |
Yes
|
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6 |
615643 |
COASY |
CoA synthase |
80347 |
609855 |
CAB4 |
YGR277C |
Coenzyme A Biosynthesis |
DiOPT |
OrthoInspector|PhylomeDB|PANTHER |
3 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, DILATED, 1M; CMD1M |
607482 |
CSRP3 |
cysteine and glycine-rich protein 3 (cardiac LIM protein) |
8048 |
600824 |
LRG1 |
YDL240W |
Lim-RhoGap homolog |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12 |
612124 |
CSRP3 |
cysteine and glycine-rich protein 3 (cardiac LIM protein) |
8048 |
600824 |
LRG1 |
YDL240W |
Lim-RhoGap homolog |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| LONG QT SYNDROME 15; LQT15 |
616249 |
CALM2 |
calmodulin 2 (phosphorylase kinase, delta) |
805 |
114182 |
CMD1 |
YBR109C |
CalMoDulin |
DiOPT |
OrthoInspector|OMA|Hieranoid|SonicParanoid|PANTHER|InParanoid |
6 |
9 |
Yes |
Yes
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B |
612389 |
TSEN2 |
TSEN2 tRNA splicing endonuclease subunit |
80746 |
608753 |
SEN2 |
YLR105C |
Splicing ENdonuclease |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28 |
609340 |
DDHD1 |
DDHD domain containing 1 |
80821 |
614603 |
DDL1 |
YOR022C |
DDHD Domain-containing Lipase |
DiOPT |
OrthoInspector|PANTHER|PhylomeDB|OrthoFinder |
4 |
9 |
Yes |
No
|
| MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED |
613112 |
TUBB1 |
tubulin, beta 1 class VI |
81027 |
612901 |
TUB2 |
YFL037W |
TUBulin |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid|PANTHER |
4 |
9 |
Yes |
No
|
| OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD |
164300 |
PABPN1 |
poly(A) binding protein, nuclear 1 |
8106 |
602279 |
SGN1 |
YIR001C |
Slower Growth on Non-fermentable carbon sources |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER |
6 |
9 |
Yes |
Yes
|
| 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN |
616271 |
CLPB |
ClpB homolog, mitochondrial AAA ATPase chaperonin |
81570 |
616254 |
HSP104 |
YLL026W |
Heat Shock Protein |
DiOPT |
SonicParanoid|OrthoInspector|PANTHER |
3 |
9 |
No |
Yes
|
| 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN |
616271 |
CLPB |
ClpB homolog, mitochondrial AAA ATPase chaperonin |
81570 |
616254 |
HSP78 |
YDR258C |
Heat Shock Protein |
DiOPT |
Ensembl Compara|OrthoInspector|SonicParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 |
609129 |
DIAPH3 |
diaphanous-related formin 3 |
81624 |
614567 |
BNI1 |
YNL271C |
Bud Neck Involved |
DiOPT |
SonicParanoid|Ensembl Compara|InParanoid |
3 |
9 |
Yes |
No
|
| AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 |
609129 |
DIAPH3 |
diaphanous-related formin 3 |
81624 |
614567 |
BNR1 |
YIL159W |
BNi1 Related |
DiOPT |
Ensembl Compara|InParanoid|SonicParanoid |
3 |
9 |
Yes |
No
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ |
300534 |
KDM5C |
lysine (K)-specific demethylase 5C |
8242 |
314690 |
JHD2 |
YJR119C |
JmjC domain-containing Histone Demethylase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| CORNELIA DE LANGE SYNDROME 2; CDLS2 |
300590 |
SMC1A |
structural maintenance of chromosomes 1A |
8243 |
300040 |
SMC1 |
YFL008W |
Stability of MiniChromosomes |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 |
309800 |
NAA10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
8260 |
300013 |
ARD1 |
YHR013C |
ARrest Defective |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| OGDEN SYNDROME; OGDNS |
300855 |
NAA10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
8260 |
300013 |
ARD1 |
YHR013C |
ARrest Defective |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEUKEMIA, ACUTE MYELOID; AML |
601626 |
PICALM |
phosphatidylinositol binding clathrin assembly protein |
8301 |
603025 |
YAP1801 |
YHR161C |
Yeast Assembly Polypeptide |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LEUKEMIA, ACUTE MYELOID; AML |
601626 |
PICALM |
phosphatidylinositol binding clathrin assembly protein |
8301 |
603025 |
YAP1802 |
YGR241C |
Yeast Assembly Polypeptide |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13 |
613192 |
TRAPPC9 |
trafficking protein particle complex 9 |
83696 |
611966 |
TRS120 |
YDR407C |
TRapp Subunit |
DiOPT |
Hieranoid|PANTHER|Ensembl Compara|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| PROSTATE CANCER |
176807 |
MAD1L1 |
MAD1 mitotic arrest deficient-like 1 (yeast) |
8379 |
602686 |
MAD1 |
YGL086W |
Mitotic Arrest-Deficient |
DiOPT |
Hieranoid|PANTHER|OMA|OrthoFinder |
4 |
9 |
Yes |
Yes
|
| CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD |
217400 |
SLC4A11 |
solute carrier family 4, sodium borate transporter, member 11 |
83959 |
610206 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
No
|
| CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 |
613268 |
SLC4A11 |
solute carrier family 4, sodium borate transporter, member 11 |
83959 |
610206 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
No
|
| CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE; CHED2 |
217700 |
SLC4A11 |
solute carrier family 4, sodium borate transporter, member 11 |
83959 |
610206 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
Ensembl Compara|OrthoInspector|PANTHER |
3 |
9 |
Yes |
No
|
| IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN |
300853 |
MAGT1 |
magnesium transporter 1 |
84061 |
300715 |
OST3 |
YOR085W |
OligoSaccharylTransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN |
300853 |
MAGT1 |
magnesium transporter 1 |
84061 |
300715 |
OST6 |
YML019W |
OligoSaccharylTransferase |
DiOPT |
Ensembl Compara|OrthoFinder|PhylomeDB|PANTHER |
4 |
9 |
No |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H |
611182 |
COG8 |
component of oligomeric golgi complex 8 |
84342 |
606979 |
COG8 |
YML071C |
Conserved Oligomeric Golgi complex |
DiOPT |
Ensembl Compara|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| BREAST CANCER |
114480 |
RAD54L |
RAD54-like (S. cerevisiae) |
8438 |
603615 |
RAD54 |
YGL163C |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LYMPHOMA, NON-HODGKIN, FAMILIAL |
605027 |
RAD54L |
RAD54-like (S. cerevisiae) |
8438 |
603615 |
RAD54 |
YGL163C |
RADiation sensitive |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC |
300354 |
CUL4B |
cullin 4B |
8450 |
300304 |
CUL3 |
YGR003W |
CULlin |
DiOPT |
Ensembl Compara|OMA|InParanoid|SonicParanoid |
4 |
9 |
Yes |
No
|
| PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E |
614496 |
CUL3 |
cullin 3 |
8452 |
603136 |
CUL3 |
YGR003W |
CULlin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| ACATALASEMIA |
614097 |
CAT |
catalase |
847 |
115500 |
CTA1 |
YDR256C |
CaTalase A |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ACATALASEMIA |
614097 |
CAT |
catalase |
847 |
115500 |
CTT1 |
YGR088W |
CaTalase T |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
No |
Yes
|
| EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS |
612714 |
COX4I2 |
cytochrome c oxidase subunit IV isoform 2 (lung) |
84701 |
607976 |
COX5A |
YNL052W |
Cytochrome c OXidase |
DiOPT |
Ensembl Compara|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS |
612714 |
COX4I2 |
cytochrome c oxidase subunit IV isoform 2 (lung) |
84701 |
607976 |
COX5B |
YIL111W |
Cytochrome c OXidase |
DiOPT |
Ensembl Compara|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 |
616198 |
GTPBP3 |
GTP binding protein 3 (mitochondrial) |
84705 |
608536 |
MSS1 |
YMR023C |
Mitochondrial Splicing System |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 |
616281 |
GPT2 |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
84706 |
138210 |
ALT1 |
YLR089C |
ALanine Transaminase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 |
616281 |
GPT2 |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
84706 |
138210 |
ALT2 |
YDR111C |
ALanine Transaminase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 |
614749 |
PIGO |
phosphatidylinositol glycan anchor biosynthesis class O |
84720 |
614730 |
GPI13 |
YLL031C |
GlycosylPhosphatidylInositol anchor biosynthesis |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC |
604901 |
UTP4 |
UTP4 small subunit (SSU) processome component |
84916 |
607456 |
UTP4 |
YDR324C |
U Three Protein |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| LONG QT SYNDROME 2; LQT2 LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED |
613688 |
ALG10 |
ALG10, alpha-1,2-glucosyltransferase |
84920 |
603313 |
DIE2 |
YGR227W |
Derepression of ITR1 Expression |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| THROMBOCYTOPENIA 2; THC2 |
188000 |
MASTL |
microtubule associated serine/threonine kinase-like |
84930 |
608221 |
RIM15 |
YFL033C |
Regulator of IME2 |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED; CG12, INCLUDED |
614882 |
PEX3 |
peroxisomal biogenesis factor 3 |
8504 |
603164 |
PEX3 |
YDR329C |
PEroXin |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|InParanoid |
5 |
9 |
Yes |
Yes
|
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 |
223900 |
IKBKAP |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
8518 |
603722 |
IKI3 |
YLR384C |
Insensitive to KIller toxin |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I |
607906 |
ALG2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
85365 |
607905 |
ALG2 |
YGL065C |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 |
616228 |
ALG2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
85365 |
607905 |
ALG2 |
YGL065C |
Asparagine-Linked Glycosylation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 |
192600 |
MYLK2 |
myosin light chain kinase 2 |
85366 |
606566 |
RCK2 |
YLR248W |
Radiation sensitivity Complementing Kinase |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| HERMANSKY-PUDLAK SYNDROME 2; HPS2 |
608233 |
AP3B1 |
adaptor-related protein complex 3, beta 1 subunit |
8546 |
603401 |
APL6 |
YGR261C |
clathrin Adaptor Protein complex Large chain |
DiOPT |
OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|InParanoid |
6 |
9 |
Yes |
No
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 |
609060 |
GFM1 |
G elongation factor, mitochondrial 1 |
85476 |
606639 |
MEF1 |
YLR069C |
Mitochondrial Elongation Factor |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC |
608323 |
YARS |
tyrosyl-tRNA synthetase |
8565 |
603623 |
TYS1 |
YGR185C |
TYrosyl-tRNA Synthetase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|InParanoid |
6 |
9 |
Yes |
Yes
|
| HYPOMYELINATION, GLOBAL CEREBRAL |
612949 |
SLC25A12 |
solute carrier family 25 (aspartate/glutamate carrier), member 12 |
8604 |
603667 |
AGC1 |
YPR021C |
Aspartate-Glutamate Carrier |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY |
612951 |
RNASET2 |
ribonuclease T2 |
8635 |
612944 |
RNY1 |
YPL123C |
RiboNuclease from Yeast |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2 |
605479 |
ABCB11 |
ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
8647 |
603201 |
STE6 |
YKL209C |
STErile |
DiOPT |
SonicParanoid|OrthoInspector|PhylomeDB|InParanoid |
4 |
9 |
Yes |
Yes
|
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2 |
601847 |
ABCB11 |
ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
8647 |
603201 |
STE6 |
YKL209C |
STErile |
DiOPT |
SonicParanoid|OrthoInspector|PhylomeDB|InParanoid |
4 |
9 |
Yes |
Yes
|
| HYPERPROLINEMIA, TYPE II; HYRPRO2 |
239510 |
ALDH4A1 |
aldehyde dehydrogenase 4 family, member A1 |
8659 |
606811 |
PUT2 |
YHR037W |
Proline UTilization |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION |
604278 |
SLC4A4 |
solute carrier family 4 (sodium bicarbonate cotransporter), member 4 |
8671 |
603345 |
BOR1 |
YNL275W |
BORon transporter |
DiOPT |
OrthoInspector|SonicParanoid|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
Yes |
No
|
| PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B |
603233 |
STX16 |
syntaxin 16 |
8675 |
603666 |
TLG2 |
YOL018C |
T-snare affecting a Late Golgi compartment |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
Yes
|
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 |
603552 |
STX11 |
syntaxin 11 |
8676 |
605014 |
SSO1 |
YPL232W |
Supressor of Sec One |
DiOPT |
Ensembl Compara|InParanoid|PANTHER |
3 |
9 |
Yes |
No
|
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 |
603552 |
STX11 |
syntaxin 11 |
8676 |
605014 |
SSO2 |
YMR183C |
Supressor of Sec One |
DiOPT |
Ensembl Compara|InParanoid|PANTHER |
3 |
9 |
Yes |
No
|
| DIARRHEA 7; DIAR7 |
615863 |
DGAT1 |
diacylglycerol O-acyltransferase 1 |
8694 |
604900 |
ARE1 |
YCR048W |
Acyl-coenzyme A: cholesterol acyl transferase-Related Enzyme |
DiOPT |
SonicParanoid|OrthoInspector |
2 |
9 |
Yes |
Yes
|
| DIARRHEA 7; DIAR7 |
615863 |
DGAT1 |
diacylglycerol O-acyltransferase 1 |
8694 |
604900 |
ARE2 |
YNR019W |
Acyl-coenzyme A: cholesterol acyl transferase-Related Enzyme |
DiOPT |
SonicParanoid|OrthoInspector |
2 |
9 |
Yes |
Yes
|
| HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
236200 |
CBS |
cystathionine-beta-synthase |
875 |
613381 |
CYS4 |
YGR155W |
CYStathionine beta-synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PEROXISOME BIOGENESIS DISORDER 14B; PEX14B |
614920 |
PEX11B |
peroxisomal biogenesis factor 11 beta |
8799 |
603867 |
PEX11 |
YOL147C |
PEroXin |
DiOPT |
Hieranoid|OrthoFinder|InParanoid|PANTHER |
4 |
9 |
Yes |
No
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 |
245400 |
SUCLG1 |
succinate-CoA ligase, alpha subunit |
8802 |
611224 |
LSC1 |
YOR142W |
Ligase of Succinyl-CoA |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5 |
612073 |
SUCLA2 |
succinate-CoA ligase, ADP-forming, beta subunit |
8803 |
603921 |
LSC2 |
YGR244C |
Ligase of Succinyl-CoA |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E |
608799 |
DPM1 |
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit |
8813 |
603503 |
DPM1 |
YPR183W |
Dolichol Phosphate Mannose synthase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 |
612621 |
SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
8831 |
603384 |
BUD2 |
YKL092C |
BUD site selection |
DiOPT |
SonicParanoid|OrthoInspector|Hieranoid |
3 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE 20, EARLY-ONSET; PARK20 |
615530 |
SYNJ1 |
synaptojanin 1 |
8867 |
604297 |
INP51 |
YIL002C |
INositol polyphosphate 5-Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
No |
Yes
|
| PARKINSON DISEASE 20, EARLY-ONSET; PARK20 |
615530 |
SYNJ1 |
synaptojanin 1 |
8867 |
604297 |
INP52 |
YNL106C |
INositol polyphosphate 5-Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE 20, EARLY-ONSET; PARK20 |
615530 |
SYNJ1 |
synaptojanin 1 |
8867 |
604297 |
INP53 |
YOR109W |
INositol polyphosphate 5-Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
No |
Yes
|
| LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
603896 |
EIF2B4 |
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa |
8890 |
606687 |
GCD2 |
YGR083C |
General Control Derepressed |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
603896 |
EIF2B3 |
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa |
8891 |
606273 |
GCD1 |
YOR260W |
General Control Derepressed |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
603896 |
EIF2B2 |
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa |
8892 |
606454 |
GCD7 |
YLR291C |
General Control Derepressed |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
603896 |
EIF2B5 |
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa |
8893 |
603945 |
GCD6 |
YDR211W |
General Control Derepressed |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 |
601382 |
MTMR2 |
myotubularin related protein 2 |
8898 |
603557 |
YMR1 |
YJR110W |
Yeast Myotubularin Related |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
No
|
| PETTIGREW SYNDROME; PGS |
304340 |
AP1S2 |
adaptor-related protein complex 1 sigma 2 subunit |
8905 |
300629 |
APS1 |
YLR170C |
clathrin Associated Protein complex Small subunit |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 |
615938 |
CCND2 |
cyclin D2 |
894 |
123833 |
CLN1 |
YMR199W |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 |
615938 |
CCND2 |
cyclin D2 |
894 |
123833 |
CLN2 |
YPL256C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 |
615938 |
CCND2 |
cyclin D2 |
894 |
123833 |
CLN3 |
YAL040C |
CycLiN |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| HYDROXYKYNURENINURIA |
236800 |
KYNU |
kynureninase |
8942 |
605197 |
BNA5 |
YLR231C |
Biosynthesis of Nicotinic Acid |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS |
244450 |
UBE3B |
ubiquitin protein ligase E3B |
89910 |
608047 |
HUL5 |
YGL141W |
Hect Ubiquitin Ligase |
DiOPT |
Hieranoid|OrthoInspector|InParanoid|PANTHER |
4 |
9 |
Yes |
No
|
| CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 |
608901 |
KALRN |
kalirin, RhoGEF kinase |
8997 |
604605 |
CDC24 |
YAL041W |
Cell Division Cycle |
DiOPT |
Ensembl Compara|PhylomeDB |
2 |
9 |
Yes |
Yes
|
| DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14 |
300946 |
TSR2 |
TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) |
90121 |
300945 |
TSR2 |
YLR435W |
Twenty S rRNA accumulation |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE |
604416 |
PSTPIP1 |
proline-serine-threonine phosphatase interacting protein 1 |
9051 |
606347 |
RGD2 |
YFL047W |
RhoGAP domain |
DiOPT |
Ensembl Compara|PANTHER |
2 |
9 |
Yes |
Yes
|
| LYSINURIC PROTEIN INTOLERANCE; LPI |
222700 |
SLC7A7 |
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 |
9056 |
603593 |
MUP1 |
YGR055W |
Methionine UPtake |
DiOPT |
OrthoInspector|OMA|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4 |
612847 |
PAPSS2 |
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
9060 |
603005 |
MET14 |
YKL001C |
METhionine requiring |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8 |
615838 |
LYRM7 |
LYR motif containing 7 |
90624 |
615831 |
MZM1 |
YDR493W |
Mitochondrial Zinc Maintenance |
DiOPT |
Hieranoid|OrthoFinder|PANTHER |
3 |
9 |
Yes |
Yes
|
| SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE |
612350 |
SLC39A13 |
solute carrier family 39 (zinc transporter), member 13 |
91252 |
608735 |
YKE4 |
YIL023C |
Yeast ortholog of mouse KE4 |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
7 |
9 |
Yes |
Yes
|
| CORNELIA DE LANGE SYNDROME 3; CDLS3 |
610759 |
SMC3 |
structural maintenance of chromosomes 3 |
9126 |
606062 |
SMC3 |
YJL074C |
Stability of MiniChromosomes |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 70; RP70 |
615922 |
PRPF4 |
pre-mRNA processing factor 4 |
9128 |
607795 |
PRP4 |
YPR178W |
Pre-mRNA Processing |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| RETINITIS PIGMENTOSA 18; RP18 |
601414 |
PRPF3 |
pre-mRNA processing factor 3 |
9129 |
607301 |
PRP3 |
YDR473C |
Pre-mRNA Processing |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN |
604168 |
CTDP1 |
CTD phosphatase subunit 1 |
9150 |
604927 |
FCP1 |
YMR277W |
tfiiF-associating component of Ctd Phosphatase |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7 |
613559 |
C12orf65 |
chromosome 12 open reading frame 65 |
91574 |
613541 |
RSO55 |
YLR281C |
mitochondrial protein Related to Spastic paraplegia with Optic atrophy and neuropathy SPG55 |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 |
615035 |
C12orf65 |
chromosome 12 open reading frame 65 |
91574 |
613541 |
RSO55 |
YLR281C |
mitochondrial protein Related to Spastic paraplegia with Optic atrophy and neuropathy SPG55 |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
7 |
9 |
Yes |
Yes
|
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE |
604273 |
ATPAF2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
91647 |
608918 |
ATP12 |
YJL180C |
ATP synthase |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N |
612015 |
RFT1 |
RFT1 homolog |
91869 |
611908 |
RFT1 |
YBL020W |
Requiring Fifty-Three |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND |
614482 |
SLC33A1 |
solute carrier family 33 (acetyl-CoA transporter), member 1 |
9197 |
603690 |
|
YBR219C |
|
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND |
614482 |
SLC33A1 |
solute carrier family 33 (acetyl-CoA transporter), member 1 |
9197 |
603690 |
|
YBR220C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 |
612539 |
SLC33A1 |
solute carrier family 33 (acetyl-CoA transporter), member 1 |
9197 |
603690 |
|
YBR219C |
|
DiOPT |
Ensembl Compara|PhylomeDB|OrthoFinder |
3 |
9 |
No |
Yes
|
| SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 |
612539 |
SLC33A1 |
solute carrier family 33 (acetyl-CoA transporter), member 1 |
9197 |
603690 |
|
YBR220C |
|
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6 |
616413 |
XPR1 |
xenotropic and polytropic retrovirus receptor 1 |
9213 |
605237 |
SYG1 |
YIL047C |
Suppressor of Yeast Gpa1 |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 |
608627 |
VAPB |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
9217 |
605704 |
SCS2 |
YER120W |
Suppressor of Choline Sensitivity |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 |
608627 |
VAPB |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
9217 |
605704 |
SCS22 |
YBL091C-A |
Suppressor of Choline Sensitivity |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK |
182980 |
VAPB |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
9217 |
605704 |
SCS2 |
YER120W |
Suppressor of Choline Sensitivity |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK |
182980 |
VAPB |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
9217 |
605704 |
SCS22 |
YBL091C-A |
Suppressor of Choline Sensitivity |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid|PANTHER |
4 |
9 |
Yes |
Yes
|
| LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3 |
260600 |
AIMP1 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
9255 |
603605 |
ARC1 |
YGL105W |
Aminoacyl-tRNA synthetase Cofactor |
DiOPT |
OrthoInspector|OrthoFinder|SonicParanoid|Hieranoid|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25 |
616430 |
MARS2 |
methionyl-tRNA synthetase 2, mitochondrial |
92935 |
609728 |
MSM1 |
YGR171C |
Mitochondrial aminoacyl-tRNA Synthetase, Methionine |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3 |
611390 |
MARS2 |
methionyl-tRNA synthetase 2, mitochondrial |
92935 |
609728 |
MSM1 |
YGR171C |
Mitochondrial aminoacyl-tRNA Synthetase, Methionine |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY |
610293 |
PIGM |
phosphatidylinositol glycan anchor biosynthesis class M |
93183 |
610273 |
GPI14 |
YJR013W |
GlycosylPhosphatidylInositol anchor biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 |
615716 |
PGAP3 |
post-GPI attachment to proteins 3 |
93210 |
611801 |
PER1 |
YCR044C |
protein Processing in the ER |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA |
610536 |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
9343 |
603892 |
SNU114 |
YKL173W |
Small NUclear ribonucleoprotein associated |
DiOPT |
OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
5 |
9 |
Yes |
Yes
|
| MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM; MSSGM |
616033 |
TRMT10A |
tRNA methyltransferase 10A |
93587 |
616013 |
TRM10 |
YOL093W |
Transfer RNA Methyltransferase |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CODAS SYNDROME |
600373 |
LONP1 |
lon peptidase 1, mitochondrial |
9361 |
605490 |
PIM1 |
YBL022C |
Proteolysis In Mitochondria |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| HYPEROXALURIA, PRIMARY, TYPE II; HP2 |
260000 |
GRHPR |
glyoxylate reductase/hydroxypyruvate reductase |
9380 |
604296 |
GOR1 |
YNL274C |
GlyOxylate Reductase |
DiOPT |
SonicParanoid|OrthoInspector|InParanoid |
3 |
9 |
Yes |
Yes
|
| BLOOD GROUP, JUNIOR SYSTEM; JR |
614490 |
ABCG2 |
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) |
9429 |
603756 |
ADP1 |
YCR011C |
ATP-Dependent Permease |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|InParanoid |
5 |
9 |
Yes |
Yes
|
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 |
138900 |
ABCG2 |
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) |
9429 |
603756 |
ADP1 |
YCR011C |
ATP-Dependent Permease |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|InParanoid |
5 |
9 |
Yes |
Yes
|
| MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY |
613668 |
MED17 |
mediator complex subunit 17 |
9440 |
603810 |
SRB4 |
YER022W |
Suppressor of RNA polymerase B |
DiOPT |
Hieranoid|PANTHER |
2 |
9 |
Yes |
Yes
|
| COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME |
280000 |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
9487 |
605947 |
GPI12 |
YMR281W |
GlycosylPhosphatidylInositol anchor biosynthesis |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C |
613640 |
SPTLC2 |
serine palmitoyltransferase, long chain base subunit 2 |
9517 |
605713 |
LCB2 |
YDR062W |
Long-Chain Base |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14 |
614020 |
TECR |
trans-2,3-enoyl-CoA reductase |
9524 |
610057 |
TSC13 |
YDL015C |
Temperature-sensitive Suppressors of Csg2 mutants |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
No
|
| LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11 |
616494 |
POLR1C |
polymerase (RNA) I polypeptide C |
9533 |
610060 |
RPC40 |
YPR110C |
RNA Polymerase C |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| TREACHER COLLINS SYNDROME 3; TCS3 |
248390 |
POLR1C |
polymerase (RNA) I polypeptide C |
9533 |
610060 |
RPC40 |
YPR110C |
RNA Polymerase C |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| THYROID CANCER, NONMEDULLARY, 2; NMTC2 |
188470 |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
9562 |
605391 |
DIA3 |
YDL024C |
Digs Into Agar |
DiOPT |
Ensembl Compara|OrthoInspector|Hieranoid|InParanoid |
4 |
9 |
No |
Yes
|
| THYROID CANCER, NONMEDULLARY, 2; NMTC2 |
188470 |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
9562 |
605391 |
PHO11 |
YAR071W |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OMA|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
No |
Yes
|
| THYROID CANCER, NONMEDULLARY, 2; NMTC2 |
188470 |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
9562 |
605391 |
PHO12 |
YHR215W |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OMA|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
No |
Yes
|
| THYROID CANCER, NONMEDULLARY, 2; NMTC2 |
188470 |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
9562 |
605391 |
PHO3 |
YBR092C |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OMA|Hieranoid|Ensembl Compara|InParanoid |
5 |
9 |
No |
Yes
|
| THYROID CANCER, NONMEDULLARY, 2; NMTC2 |
188470 |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
9562 |
605391 |
PHO5 |
YBR093C |
PHOsphate metabolism |
DiOPT |
OrthoInspector|OMA|Hieranoid|PhylomeDB|Ensembl Compara|InParanoid |
6 |
9 |
Yes |
Yes
|
| EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 |
614018 |
GOSR2 |
golgi SNAP receptor complex member 2 |
9570 |
604027 |
BOS1 |
YLR078C |
Bet One Suppressor |
DiOPT |
Hieranoid|PANTHER|OrthoFinder |
3 |
9 |
Yes |
Yes
|
| ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15 |
615770 |
NUP155 |
nucleoporin 155kDa |
9631 |
606694 |
NUP157 |
YER105C |
NUclear Pore |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15 |
615770 |
NUP155 |
nucleoporin 155kDa |
9631 |
606694 |
NUP170 |
YBL079W |
NUclear Pore |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| TRICHOHEPATOENTERIC SYNDROME 1; THES1 |
222470 |
TTC37 |
tetratricopeptide repeat domain 37 |
9652 |
614589 |
SKI3 |
YPR189W |
SuperKIller |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| MAJEED SYNDROME |
609628 |
LPIN2 |
lipin 2 |
9663 |
605519 |
PAH1 |
YMR165C |
Phosphatidic Acid phosphoHydrolase |
DiOPT |
OrthoInspector|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI; FFEVF |
604364 |
DEPDC5 |
DEP domain containing 5 |
9681 |
614191 |
IML1 |
YJR138W |
Increased Minichromosome Loss |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|PANTHER|Ensembl Compara|InParanoid |
7 |
9 |
Yes |
Yes
|
| ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES |
268305 |
EIF4A3 |
eukaryotic translation initiation factor 4A3 |
9775 |
608546 |
FAL1 |
YDR021W |
eukaryotic translation initiation factor Four A Like |
DiOPT |
OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
8 |
9 |
Yes |
Yes
|
| APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC |
107600 |
BMS1 |
BMS1 ribosome biogenesis factor |
9790 |
611448 |
BMS1 |
YPL217C |
BMh Sensitive |
DiOPT |
OrthoInspector|OMA|OrthoFinder|SonicParanoid|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19 |
615528 |
DNAJC6 |
DnaJ (Hsp40) homolog, subfamily C, member 6 |
9829 |
608375 |
SWA2 |
YDR320C |
Synthetic lethal With Arf1 |
DiOPT |
Ensembl Compara|OrthoInspector|OrthoFinder|PANTHER |
4 |
9 |
Yes |
Yes
|
| COLE-CARPENTER SYNDROME 2; CLCRP2 |
616294 |
SEC24D |
SEC24 homolog D, COPII coat complex component |
9871 |
607186 |
SFB3 |
YHR098C |
Sed Five Binding |
DiOPT |
OMA|OrthoFinder|Hieranoid|PhylomeDB|PANTHER|Ensembl Compara |
6 |
9 |
Yes |
Yes
|
| AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11 |
612577 |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
9896 |
609390 |
FIG4 |
YNL325C |
Factor-Induced Gene |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J |
611228 |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
9896 |
609390 |
FIG4 |
YNL325C |
Factor-Induced Gene |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP |
612691 |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
9896 |
609390 |
FIG4 |
YNL325C |
Factor-Induced Gene |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| YUNIS-VARON SYNDROME; YVS |
216340 |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
9896 |
609390 |
FIG4 |
YNL325C |
Factor-Induced Gene |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| MEIER-GORLIN SYNDROME 5; MGORS5 |
613805 |
CDC6 |
cell division cycle 6 |
990 |
602627 |
CDC6 |
YJL194W |
Cell Division Cycle |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|Ensembl Compara|InParanoid |
9 |
9 |
Yes |
Yes
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 |
609260 |
MFN2 |
mitofusin 2 |
9927 |
608507 |
FZO1 |
YBR179C |
FuZzy Onions homolog |
DiOPT |
Ensembl Compara|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA; HMSN6A |
601152 |
MFN2 |
mitofusin 2 |
9927 |
608507 |
FZO1 |
YBR179C |
FuZzy Onions homolog |
DiOPT |
Ensembl Compara|Hieranoid|PANTHER |
3 |
9 |
Yes |
Yes
|
| LUJAN-FRYNS SYNDROME |
309520 |
MED12 |
mediator complex subunit 12 |
9968 |
300188 |
SRB8 |
YCR081W |
Suppressor of RNA polymerase B |
DiOPT |
Hieranoid|PANTHER |
2 |
9 |
Yes |
Yes
|
| OHDO SYNDROME, X-LINKED; OHDOX |
300895 |
MED12 |
mediator complex subunit 12 |
9968 |
300188 |
SRB8 |
YCR081W |
Suppressor of RNA polymerase B |
DiOPT |
Hieranoid|PANTHER |
2 |
9 |
Yes |
Yes
|
| OPITZ-KAVEGGIA SYNDROME; OKS |
305450 |
MED12 |
mediator complex subunit 12 |
9968 |
300188 |
SRB8 |
YCR081W |
Suppressor of RNA polymerase B |
DiOPT |
Hieranoid|PANTHER |
2 |
9 |
Yes |
Yes
|
| LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G |
609115 |
HNRNPDL |
heterogeneous nuclear ribonucleoprotein D-like |
9987 |
607137 |
HRP1 |
YOL123W |
Heterogenous nuclear RibonucleoProtein |
DiOPT |
Hieranoid|Ensembl Compara|InParanoid |
3 |
9 |
Yes |
Yes
|
| CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1 |
604377 |
SCO2 |
SCO2 cytochrome c oxidase assembly protein |
9997 |
604272 |
SCO1 |
YBR037C |
Suppressor of Cytochrome Oxidase deficiency |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
| MYOPIA 6; MYP6 |
608908 |
SCO2 |
SCO2 cytochrome c oxidase assembly protein |
9997 |
604272 |
SCO1 |
YBR037C |
Suppressor of Cytochrome Oxidase deficiency |
DiOPT |
OrthoInspector|OMA|OrthoFinder|Hieranoid|SonicParanoid|PhylomeDB|PANTHER|InParanoid |
8 |
9 |
Yes |
No
|
