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 |