AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Disease: Overgrowth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006