amino acid metabolic disorder Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorders which impair the synthesis and degradation of amino acids. (Human Disease Ontology, DOID_9252)
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Genes

55 genes involed in the disease amino acid metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AASS aminoadipate-semialdehyde synthase
AHCY adenosylhomocysteinase
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
AMT aminomethyltransferase
ARG1 arginase 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BTD biotinidase
CBS cystathionine-beta-synthase
D2HGDH D-2-hydroxyglutarate dehydrogenase
DBT dihydrolipoamide branched chain transacylase E2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GLDC glycine dehydrogenase (decarboxylating)
GNMT glycine N-methyltransferase
HAL histidine ammonia-lyase
HGD homogentisate 1,2-dioxygenase
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HPD 4-hydroxyphenylpyruvate dioxygenase
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IVD isovaleryl-CoA dehydrogenase
L2HGDH L-2-hydroxyglutarate dehydrogenase
MAT1A methionine adenosyltransferase I, alpha
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
OTC ornithine carbamoyltransferase
PAH phenylalanine hydroxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PHGDH phosphoglycerate dehydrogenase
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
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
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SUGCT succinyl-CoA:glutarate-CoA transferase
TAT tyrosine aminotransferase