AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Disease: Overgrowth ×
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: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522 2016
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160 2015
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829 2012
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR 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: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006