homocystinuria Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (Human Disease Ontology, DOID_9263)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0002156
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Genes

9 genes associated with the homocystinuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
ABCD4	ATP-binding cassette, sub-family D (ALD), member 4
CBS	cystathionine-beta-synthase
HCFC1	host cell factor C1
LMBRD1	LMBR1 domain containing 1
MMACHC	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
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