Gene: NR1H4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4 		0.030 Biomarker disease BEFREE In the last 5 years, new genetic disorders, such as TJP2, FXR, and MYO5B defects, have been demonstrated to cause a similar PFIC phenotype. 30367658 2018
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4 		0.030 GeneticVariation disease BEFREE Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. 26888176 2016
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4 		0.030 GeneticVariation disease BEFREE No NR1H4 mutation was found in PFIC patients. 23142591 2012