TJP2, tight junction protein 2, 9414

N. diseases: 37; N. variants: 16
Disease: Hypercholanemia, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.710 Biomarker disease GENOMICS_ENGLAND Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. 24752540 2014
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.710 GermlineCausalMutation disease ORPHANET Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386 2003
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.710 GeneticVariation disease UNIPROT Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386 2003
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.710 GeneticVariation disease BEFREE Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386 2003
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.710 GeneticVariation disease CLINVAR
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.710 CausalMutation disease CLINVAR
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.710 Biomarker disease CTD_human