Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations. 30121674

2018
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944

2017
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380

2016
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522

2016
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160

2015
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829

2012
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937

2010
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098

2006
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 15024124

2004
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker CLINGEN The enzymatic synthesis of S-adenosyl-L-homocysteine from adenosine and homocysteine. 13641268

1959