inherited metabolic disorder Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality. (Human Disease Ontology, DOID_655)
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Genes

272 genes involed in the disease inherited metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AASS aminoadipate-semialdehyde synthase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD5 abhydrolase domain containing 5
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGXT alanine-glyoxylate aminotransferase
AHCY adenosylhomocysteinase
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
AMT aminomethyltransferase
ANGPTL3 angiopoietin-like 3
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOE apolipoprotein E
ARG1 arginase 1
ARSA arylsulfatase A
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATP13A2 ATPase type 13A2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BTD biotinidase
C10ORF2 chromosome 10 open reading frame 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAT catalase
CBS cystathionine-beta-synthase
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COG7 component of oligomeric golgi complex 7
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPOX coproporphyrinogen oxidase
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSF cathepsin F
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DBT dihydrolipoamide branched chain transacylase E2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DHCR7 7-dehydrocholesterol reductase
DLAT dihydrolipoamide S-acetyltransferase
DNA2 DNA replication helicase/nuclease 2
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DPYD dihydropyrimidine dehydrogenase
ENO3 enolase 3 (beta, muscle)
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FASTKD2 FAST kinase domains 2
FECH ferrochelatase
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC glucose-6-phosphatase, catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLUD1 glutamate dehydrogenase 1
GM2A GM2 ganglioside activator
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNMT glycine N-methyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRN granulin
GUSB glucuronidase, beta
GYG1 glycogenin 1
GYS2 glycogen synthase 2 (liver)
HADH hydroxyacyl-CoA dehydrogenase
HAL histidine ammonia-lyase
HAMP hepcidin antimicrobial peptide
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
HPD 4-hydroxyphenylpyruvate dioxygenase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HYAL1 hyaluronoglucosaminidase 1
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IVD isovaleryl-CoA dehydrogenase
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMP2 lysosomal-associated membrane protein 2
LCAT lecithin-cholesterol acyltransferase
LCT lactase
LDHA lactate dehydrogenase A
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LPL lipoprotein lipase
LRPPRC leucine-rich pentatricopeptide repeat containing
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAT1A methionine adenosyltransferase I, alpha
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MCM6 minichromosome maintenance complex component 6
MCOLN1 mucolipin 1
MFSD8 major facilitator superfamily domain containing 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MPDU1 mannose-P-dolichol utilization defect 1
MPI mannose phosphate isomerase
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
NAGLU N-acetylglucosaminidase, alpha
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA4 NDUFA4, mitochondrial complex associated
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NGLY1 N-glycanase 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
OTC ornithine carbamoyltransferase
PAH phenylalanine hydroxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCSK9 proprotein convertase subtilisin/kexin type 9
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGM1 phosphoglucomutase 1
PHGDH phosphoglycerate dehydrogenase
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHYH phytanoyl-CoA 2-hydroxylase
PMM2 phosphomannomutase 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PPOX protoporphyrinogen oxidase
PPT1 palmitoyl-protein thioesterase 1
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRNP prion protein
PSAP prosaposin
PTS 6-pyruvoyltetrahydropterin synthase
PYGL phosphorylase, glycogen, liver
PYGM phosphorylase, glycogen, muscle
QDPR quinoid dihydropteridine reductase
RFT1 RFT1 homolog (S. cerevisiae)
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCO1 SCO1 cytochrome c oxidase assembly protein
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SGSH N-sulfoglucosamine sulfohydrolase
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SRD5A3 steroid 5 alpha-reductase 3
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
SUGCT succinyl-CoA:glutarate-CoA transferase
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAT tyrosine aminotransferase
TAZ tafazzin
TFR2 transferrin receptor 2
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TMEM165 transmembrane protein 165
TPP1 tripeptidyl peptidase I
TYMP thymidine phosphorylase
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase