TJP2, tight junction protein 2, 9414

N. diseases: 37; N. variants: 16
Disease: Hypercholanemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918299
rs121918299
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C1843139
Disease:
Hypercholanemia, Familial 		0.800 GeneticVariation UNIPROT Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386 2003
dbSNP: rs121918299
rs121918299
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C1843139
Disease:
Hypercholanemia, Familial 		C 0.800 CausalMutation CLINVAR