abnormality of serum amino acid levels Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. (Human Phenotype Ontology, HP_0003112)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003112
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Genes

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

Symbol Name
AASS aminoadipate-semialdehyde synthase
AMT aminomethyltransferase
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
CA5A carbonic anhydrase VA, mitochondrial
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
FBXL4 F-box and leucine-rich repeat protein 4
GCSH glycine cleavage system protein H (aminomethyl carrier)
GLDC glycine dehydrogenase (decarboxylating)
GLYCTK glycerate kinase
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
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
MRPL3 mitochondrial ribosomal protein L3
MTO1 mitochondrial tRNA translation optimization 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
OTC ornithine carbamoyltransferase
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PSAT1 phosphoserine aminotransferase 1
TMEM70 transmembrane protein 70