abnormality of aspartate family amino acid metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of a aspartate family amino acid metabolic process. (Human Phenotype Ontology, HP_0010899)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010899
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Genes

18 genes associated with the abnormality of aspartate family 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
ADK adenosine kinase
AHCY adenosylhomocysteinase
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GNMT glycine N-methyltransferase
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LMBRD1 LMBR1 domain containing 1
MAT1A methionine adenosyltransferase I, alpha
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
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
TTC37 tetratricopeptide repeat domain 37