|
gene
name
|
protein
ID
|
yeast
ortholog
|
homozygous
deletion
|
disease
|
| ATP7B | S40525 | YDR270W | class III | Wilson disease (WD) |
| BCKDHA | DEHUXA | YER178W | class III | Maple syrup urine disease (MSUD) |
| BCKDHB | A37157 | YBR221C | class III | Maple syrup urine disease (MSUD) |
| BCS1L | Q9Y276 | YDR375C | class III | Tubulopathy, encephalopathy, and liver failure due to CIII deficiency |
| COX10 | Q12887 | YPL172C | class III | Deficiency of complex IV |
| DBT | A32422 | YDR148C | class III | Maple syrup urine disease (MSUD) |
| DLD | DEHULP | YFL018C | class III | Dihydrolipoamide dehydrogenase deficiency;Leigh syndrome |
| FH | UFHUM | YPL262W | class III | Deficiency of fumarate hydratase |
| GCSH | GCHUH | YAL044C | class III | Non-ketotic hyperglycinemia, type III (NKH3) |
| HHH | AF112968 | YDL198C;YNL003C | class III | Deficiency of ornithine translocase |
| MTHFD1 | A31903 | YBR084W | class III | Deficiency of MTHFD1 |
| PDHA1 | DEHUPA | YER178W | class III | Pyruvate dehydrogenase deficiency;Leigh syndrome |
| PDX1 | U82328 | YNL071W | class III | Pyruvate dehydrogenase deficiency |
| POLG | G02750 | YOR330C | class III | Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEO); Involved in male infertility (MI) |
| PPOX | PPOX_HUMAN | YER014W | class III | Porphyria variegata (VP) |
| SCO1 | O75880 | YBR037C | class III | Deficiency of complex IV |
| SCO2 | AL021683 | YBR037C | class III | Fatal infantile cardioencephalomyopathy due to Cox deficiency |
| SDHA | JX0336 | YKL148C | class III | Leigh syndrome;Deficiency of succinate dehydrogenase |
| SDHB | A34045 | YLL041C | class III | Familial extraadrenal Pheochromocytoma |
| SPG7 | Y16610 | YMR089C | class III | Hereditary spastic paraplegia (HSP) |
| SURF1 | S57749 | YGR112W | class III | Leigh syndrome |
| ABAT | GABT_HUMAN | YGR019W | not class III | Deficiency of GABA-transaminase |
| ACADS | A30605 | YGL205W | not class III | SCAD deficiency |
| AGXT | P21549 | YFL030W | not class III | Primary hyperoxaluria, type I |
| ALDH2 | DEHUE2 | YMR170C | not class III | Alcohol intolerance, acute |
| ALDH4 | PUT2_HUMAN | YHR037W | not class III | Hyperprolinemia, type II (HPII) |
| AMT | I54192 | YDR019C | not class III | Non-ketotic hyperglycinemia, type II (NKH2) |
| CPS1 | JQ1348 | YJL130C | not class III | Hyperammonemia, type I |
| CPT1A | I59351 | YML042W | not class III | Carnitine O-palmitoyltransferase I deficiency |
| CPT2 | A39018 | YAR035W | not class III | Carnitine O-palmitoyltransferase II deficiency |
| CYB5 | CBHU5 | YNL111C | not class III | Methemoglobinemia (type IV) due to deficiency of CYB5 |
| DMGDH | M2GD_HUMAN | YDR019C | not class III | Dimethylglycine dehydrogenase deficiency (DMGDHD) |
| ETFA | A31998 | YPR004c | not class III | Glutaric aciduria, type IIa (GAIIa) |
| ETFB | S32482 | YGR207c | not class III | Glutaric aciduria, type IIb (GAIIb) |
| ETFDH | Q16134 | YOR356w | not class III | Glutaric aciduria, type IIc (GAIIc) |
| FECH | A36403 | YOR176W | not class III | Erythropoietic protoporphyria (EPP) |
| GCK | A46157 | YFR053C | not class III | Diabetes mellitus, type II (NIDDM) |
| GK | GLPK_HUMAN | YHL032C | not class III | Glycerol kinase deficiency (GKD) |
| GLDC | B39521 | YMR189W | not class III | Non-ketotic hyperglycinemia, type I (NKH1) |
| GLUD1 | DEHUE | YAL062W | not class III | Hyperinsulinism-Hyperammonemia syndrome (HHS) |
| GPD2 | GPDM_HUMAN | YIL155C | not class III | Diabetes mellitus, type II (NIDDM) |
| HADHA | JC2108 | YDR036c | not class III | Trifunctional enzyme deficiency;Maternal acute fatty liver of pregnancy (AFLP) |
| HK1 | A31869 | YFR053C | not class III | Hemolytic anemia due to hexokinase deficiency |
| HMGCS2 | S51103 | YML126C | not class III | Deficiency of HMGCS2 |
| KIF1B | KF1B_HUMAN | YGL216W | not class III | Charcot-Marie-Tooth disease (CMT2A) |
| MMSDH | MMSA_HUMAN | YOR374W | not class III | Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) |
| OAT | XNHUO | YLR438W | not class III | Ornithinemia with gyrate atrophy (GA) |
| OPA1 | T00336 | YLL001W | not class III | Optic atrophy (OPA1) |
| OTC | OWHU | YJL088w | not class III | Hyperammonemia, type II |
| PC | JC2460 | YGL062W | not class III | Deficiency of pyruvate carboxylase, type I and II |
| PCCA | A27883 | YBR208C | not class III | Propionic acidemia, type I (PA-1) |
| SLC25A13 | NP_055066 | YPR021c | not class III | Citrullinemia, type II (CTLN2) |
| SLC25A20 | Y10319 | YOR100c | not class III | Carnitine-acylcarnitine translocase deficiency |
| TAT | S10887 | YJL060w | not class III | Tyrosine transaminase deficiency, type II (Richner-Hanhart syndrome) |
| ABC7 | ABC7_HUMAN | YMR301C | not measured | X-linked sideroblastic anemia and ataxia (XLSA/A) |
| ACAT1 | JH0255 | YPL028W | not measured | Deficiency of 3-ketothiolase (3KTD) |
| ALAS2 | SYHUAE | YDR232W | not measured | X-linked sideroblastic anemia (XLSA) |
| CPO | I52444 | YDR044W | not measured | Hereditary coproporphyria (HCP) |
| DFN1 | U66035 | YJR135W-A | not measured | Mohr-Tranebjaerg syndrome (MTS) |
| DIA1 | RDHUB5 | YML125c | not measured | Methemoglobinemia (type I, and II) due to deficiency of CYB5 |
| FRDA1 | U43747 | YDL120W | not measured | Friedreich ataxia 1 |
| HADHB | JC2109 | YPL028w | not measured | Trifunctional enzyme deficiency |
| HLCS | BPL1_HUMAN | YDL141W | not measured | Biotin-responsive multiple carboxylase deficiency |
| HSD3B2 | DEHUH2 | YGL001C | not measured | Congenital adrenal hyperplasia (CAH) |
| MPO | OPHUM | YJR151c | not measured | Myeloperoxidase deficiency (MPOD) |
| OGG1 | U96710 | YGL201C | not measured | Hereditary renal cell carcinoma (RCC1) |
| PCCB | A53020 | YNR016C | not measured | Propionic acidemia, type II (PA-2) |
| SLC25A4 | A44778 | YBR085W | not measured | Chronic progressive external ophthalmoplegia, type III (CPEO3);Mitochondrial myopathy and cardiomyopathy (MiMyCa) |
| UROS | A40483 | YOR278W | not measured | Congenital erythropietic porphyria (CEP) |
| ACADL | A40559 | no ortholog | no ortholog | LCAD deficiency |
| ACADM | I52240 | no ortholog | no ortholog | MCAD deficiency |
| ACADSB | A55680 | no ortholog | no ortholog | 2-alpha-methylbutyrylglycinuria |
| ACADVL | ACDB_HUMAN | no ortholog | no ortholog | VLCAD deficiency |
| AMACR | CAB44062 | no ortholog | no ortholog | Alpha-methylacyl-CoA racemase deficiency (AMACRD) |
| C10ORF2 | AF292004_1 | no ortholog | no ortholog | Autosomal dominant progressive external ophthalmoplegia (adPEO) |
| CYP11B1 | S11338 | no ortholog | no ortholog | Adrenal hyperplasia, type IV (AH-IV) |
| CYP11B2 | B34181 | no ortholog | no ortholog | Deficiency of corticosterone methyloxidase, type II (CMO) |
| CYP27 | A39740 | no ortholog | no ortholog | Cerebrotendinous xanthomatosis (CTX) |
| DGUOK | JC6142 | no ortholog | no ortholog | Mitochondrial DNA-depletion syndrome, hepatocerebral form (MDS) |
| ECGF1 | P19971 | no ortholog | no ortholog | Myoneurogastrointestinal encephalopathy syndrome (MNGIE) |
| EFE2 | TFZ_HUMAN | no ortholog | no ortholog | Barth syndrome |
| GCDH | GCDH_HUMAN | no ortholog | no ortholog | Glutaric aciduria, type I (GA-I) |
| HMGCL | A45470 | no ortholog | no ortholog | Hydroxymethylglutaricaciduria (HMGCL) |
| IVD | A37033 | no ortholog | no ortholog | Isovaleric acidemia (IVA) |
| MAOA | A36175 | no ortholog | no ortholog | Brunner's syndrome |
| MCCC1 | NP_064551 | no ortholog | no ortholog | 3-Methylcrotonylglycinuria 1 |
| MCD | DCMC_HUMAN | no ortholog | no ortholog | Malonyl-CoA decarboxylase deficiency (MLYCD) |
| MUT | S40622 | no ortholog | no ortholog | Methylmalonic acidemia (MUT-, MUT0 type) |
| NDUFS1 | S17854 | no ortholog | no ortholog | Deficiency of complex I |
| NDUFS4 | NUYM_HUMAN | no ortholog | no ortholog | Leigh syndrome |
| NDUFS7 | O75251 | no ortholog | no ortholog | Leigh syndrome |
| NDUFS8 | NUIM_HUMAN | no ortholog | no ortholog | Leigh syndrome |
| NDUFV1 | A44362 | no ortholog | no ortholog | Alexander disease;Leigh syndrome |
| OPA3 | NM_025136 | no ortholog | no ortholog | 3-methylglutaconicaciduria, type III |
| OXCT | SCOT_HUMAN | no ortholog | no ortholog | Deficiency of Succinyl-CoA:3-oxoacid-CoA transferase |
| SDHC | D49737 | no ortholog | no ortholog | Hereditary paraganglioma, type III (PGL3) |
| SDHD | DHSD_HUMAN | no ortholog | no ortholog | Hereditary paraganglioma, type I (PGL1) |
| STAR | I38896 | no ortholog | no ortholog | Congenital lipoid adrenal hyperplasia |
| SUOX | S55874 | no ortholog | no ortholog | Sulfocysteinuria |
| TK2 | KIHUT | no ortholog | no ortholog | Mitochondrial DNA-depletion syndrome (MDS) |
| TPO | OPHUIT | no ortholog | no ortholog | Iodide peroxidase deficiency (IPD) |
| WFS | Y18064 | no ortholog | no ortholog | DIDMOAD |