abnormality of amino acid metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of an amino acid metabolic process. (Human Phenotype Ontology, HP_0004337)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004337
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Genes

131 genes associated with the abnormality of amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AASS aminoadipate-semialdehyde synthase
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ADK adenosine kinase
AGK acylglycerol kinase
AHCY adenosylhomocysteinase
ALDH4A1 aldehyde dehydrogenase 4 family, member A1
ALDOB aldolase B, fructose-bisphosphate
AMT aminomethyltransferase
ARG1 arginase 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCKDK branched chain ketoacid dehydrogenase kinase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CA5A carbonic anhydrase VA, mitochondrial
CAMKMT calmodulin-lysine N-methyltransferase
CASR calcium-sensing receptor
CBS cystathionine-beta-synthase
CLCN5 chloride channel, voltage-sensitive 5
COA5 cytochrome c oxidase assembly factor 5
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CTH cystathionine gamma-lyase
CTNS cystinosin, lysosomal cystine transporter
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DBT dihydrolipoamide branched chain transacylase E2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DGUOK deoxyguanosine kinase
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DLD dihydrolipoamide dehydrogenase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FH fumarate hydratase
FTCD formimidoyltransferase cyclodeaminase
GALE UDP-galactose-4-epimerase
GALT galactose-1-phosphate uridylyltransferase
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCH1 GTP cyclohydrolase 1
GCSH glycine cleavage system protein H (aminomethyl carrier)
GLDC glycine dehydrogenase (decarboxylating)
GLYCTK glycerate kinase
GNMT glycine N-methyltransferase
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HCFC1 host cell factor C1
HGD homogentisate 1,2-dioxygenase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HPD 4-hydroxyphenylpyruvate dioxygenase
IVD isovaleryl-CoA dehydrogenase
LMBRD1 LMBR1 domain containing 1
MAT1A methionine adenosyltransferase I, alpha
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MRPL3 mitochondrial ribosomal protein L3
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTO1 mitochondrial tRNA translation optimization 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
NAGA N-acetylgalactosaminidase, alpha-
NEU1 sialidase 1 (lysosomal sialidase)
OCRL oculocerebrorenal syndrome of Lowe
OTC ornithine carbamoyltransferase
PAH phenylalanine hydroxylase
PC pyruvate carboxylase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POLG polymerase (DNA directed), gamma
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PRODH proline dehydrogenase (oxidase) 1
PSAT1 phosphoserine aminotransferase 1
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SERAC1 serine active site containing 1
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SPINK5 serine peptidase inhibitor, Kazal type 5
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SQSTM1 sequestosome 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUOX sulfite oxidase
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAT tyrosine aminotransferase
TK2 thymidine kinase 2, mitochondrial
TMEM70 transmembrane protein 70
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TTC37 tetratricopeptide repeat domain 37
UMPS uridine monophosphate synthetase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)