Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
0.010 GeneticVariation disease BEFREE Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. 26888176 2016