FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Cholestasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.300 Biomarker disease GENOMICS_ENGLAND Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect. 15759101 2005