ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE We searched for FIC1 mutations and analyzed the outcome of extrahepatic features after liver transplantation in two children with this form of progressive familial intrahepatic cholestasis associated with chronic unexplained diarrhea and short stature. 12927934 2003
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO