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: C0085605
Disease: Liver Failure
Liver Failure
0.010 GeneticVariation disease BEFREE AHCY mutations should be considered when seeking an etiology for neonates with the combination of non-immune hydrops, hypotonia, encephalopathy, and liver failure. 30121674 2018