AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Disease: S-adenosylhomocysteine hydrolase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome. 19177456 2009
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 15024124 2004
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		C 0.800 CausalMutation CLINVAR