Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 191
Gene Symbol: AHCY
AHCY
0.100 GeneticVariation phenotype CLINVAR Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522 2016
Entrez Id: 191
Gene Symbol: AHCY
AHCY
0.100 GeneticVariation phenotype CLINVAR Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160 2015
Entrez Id: 191
Gene Symbol: AHCY
AHCY
0.100 GeneticVariation phenotype CLINVAR Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829 2012
Entrez Id: 191
Gene Symbol: AHCY
AHCY
0.100 GeneticVariation phenotype CLINVAR S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
Entrez Id: 191
Gene Symbol: AHCY
AHCY
0.100 GeneticVariation phenotype CLINVAR S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006