AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations. 30121674 2018
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944 2017
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CTD_human Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. 26974671 2016
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380 2016
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522 2016
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160 2015
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829 2012
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 GeneticVariation disease UNIPROT S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 GeneticVariation disease UNIPROT S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome. 19177456 2009
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 GeneticVariation disease UNIPROT S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 GermlineCausalMutation disease ORPHANET S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy. 16435181 2005
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 GeneticVariation disease UNIPROT S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 15024124 2004
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 15024124 2004
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 15024124 2004
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 Biomarker disease CLINGEN The enzymatic synthesis of S-adenosyl-L-homocysteine from adenosine and homocysteine. 13641268 1959
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		0.400 Biomarker phenotype CTD_human Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. 26974671 2016
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		0.400 Biomarker phenotype HPO
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.320 GeneticVariation disease BEFREE Excess copper inhibits S-adenosyl-L-homocysteine hydrolase, leading to variable WD phenotypes from widespread alterations in DNA methylation and gene expression. 30010856 2018
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.320 AlteredExpression disease BEFREE Of note, reciprocal expression of Asmt and Bhmt is an important clue that altered S-adenosylhomocysteine metabolism underlies brain injury in WD, which is directly correlated to the decreased expression of S-adenosylhomocysteine hydrolase in hepatic tissue in LEC rats. 23519153 2013
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.320 Biomarker disease CTD_human Of note, reciprocal expression of Asmt and Bhmt is an important clue that altered S-adenosylhomocysteine metabolism underlies brain injury in WD, which is directly correlated to the decreased expression of S-adenosylhomocysteine hydrolase in hepatic tissue in LEC rats. 23519153 2013
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.310 Biomarker disease BEFREE These results indicate that epigenetically mediated inhibition of Ahcy expression may be a driving force in causing SAH elevation and subsequent downstream disturbances in transsulfuration and transmethylation pathways during the development and progression of NASH.-Pogribny, I. P., Dreval, K., Kindrat, I., Melnyk, S., Jimenez, L., de Conti, A., Tryndyak, V., Pogribna, M., Ortega, J. F., James, S. J., Rusyn, I., Beland, F. A. Epigenetically mediated inhibition of S-adenosylhomocysteine hydrolase and the associated dysregulation of 1-carbon metabolism in nonalcoholic steatohepatitis and hepatocellular carcinoma. 29127188 2018