Difference between revisions of "OMIM Disease Phenotype to human gene(s) to yeast homolog(s)"
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Latest revision as of 09:10, 15 March 2024
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 |