Homocystinuria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0019880
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Genes

41 genes associated with the disease Homocystinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ATXN3 ataxin 3
BCHE butyrylcholinesterase
CBS cystathionine-beta-synthase
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F8 coagulation factor VIII, procoagulant component
FBN1 fibrillin 1
GOT1 glutamic-oxaloacetic transaminase 1, soluble
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial
HRG histidine-rich glycoprotein
IKZF2 IKAROS family zinc finger 2 (Helios)
LEP leptin
LMBRD1 LMBR1 domain containing 1
LOC102724560 cystathionine beta-synthase
LOX lysyl oxidase
MAT1A methionine adenosyltransferase I, alpha
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMUT methylmalonyl-CoA mutase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NR1H4 nuclear receptor subfamily 1, group H, member 4
PAEP progestagen-associated endometrial protein
PEMT phosphatidylethanolamine N-methyltransferase
PLG plasminogen
PRDX1 peroxiredoxin 1
PROC protein C (inactivator of coagulation factors Va and VIIIa)
SAA2 serum amyloid A2
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TH tyrosine hydroxylase
THBD thrombomodulin
TYR tyrosinase
VWF von Willebrand factor