TJP2, tight junction protein 2, 9414

N. diseases: 37; N. variants: 16
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
CUI: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.700 CausalMutation disease CLINVAR Mutations in TJP2 cause progressive cholestatic liver disease. 24614073 2014
CUI: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.700 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: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.700 GermlineCausalMutation disease ORPHANET Mutations in TJP2 cause progressive cholestatic liver disease. 24614073 2014
CUI: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.700 Biomarker disease CTD_human
CUI: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.700 GeneticVariation disease CLINVAR
CUI: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.510 Biomarker phenotype GENOMICS_ENGLAND Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. 24752540 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.510 Biomarker phenotype CTD_human Recently, several mutations in apoptosis genes were identified as the cause of monogenic hearing impairment.These genes are TJP2, DFNA5 and MSRB3. 21782914 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.510 Biomarker phenotype BEFREE Recently, several mutations in apoptosis genes were identified as the cause of monogenic hearing impairment.These genes are TJP2, DFNA5 and MSRB3. 21782914 2011
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.410 GeneticVariation disease BEFREE Biallelic TJP2 variants must be considered in children with clinically intermittent or resolved intrahepatic cholestasis. 31696999 2019
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.410 Biomarker disease CTD_human Mutations in TJP2 cause progressive cholestatic liver disease. 24614073 2014
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.410 Biomarker disease HPO
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment. 26668150 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 24853665 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. 24752540 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN In an Israeli kindred, dominant, adult-onset, progressive nonsyndromic hearing loss DFNA51 is due to a tandem inverted genomic duplication of 270 kb that includes the entire wild-type gene encoding the tight junction protein TJP2 (ZO-2). 20602916 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease BEFREE In an Israeli kindred, dominant, adult-onset, progressive nonsyndromic hearing loss DFNA51 is due to a tandem inverted genomic duplication of 270 kb that includes the entire wild-type gene encoding the tight junction protein TJP2 (ZO-2). 20602916 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. 18616530 2008