Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
0.020 GeneticVariation disease BEFREE We report a Chinese female PFIC child with novel compound heterozygous mutations of TJP2. 30658709 2019
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
0.020 GeneticVariation disease BEFREE Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. 29238877 2018