TJP2, tight junction protein 2, 9414

N. diseases: 37; N. variants: 16
Disease: Cholestatic liver disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		0.020 GeneticVariation disease BEFREE Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. 30658709 2019
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		0.020 GeneticVariation disease BEFREE Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. 24614073 2014