TJP1, tight junction protein 1, 7082

N. diseases: 91; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs785422
rs785422
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASDB Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
dbSNP: rs785422
rs785422
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
dbSNP: rs785422
rs785422
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C1720164
Disease:
Central corneal thickness 		0.700 GeneticVariation GWASCAT Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density. 30894546 2019
dbSNP: rs785422
rs785422
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C1720164
Disease:
Central corneal thickness 		T 0.700 GeneticVariation GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442 2018
dbSNP: rs785429
rs785429
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0524957
Disease:
Corneal Topography 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
dbSNP: rs11853442
rs11853442
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0027404
Disease:
Narcolepsy 		0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs754428169
rs754428169
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.010 GeneticVariation BEFREE Additional rare TJP1 variants have been identified in 1 of 40 Italian probands (c.793C>T p.(R265W)) with arrhythmogenic right ventricular cardiomyopathy and in 2 of 43 Dutch/German patients (c. 986C>T, p.(S329L) and c.1079A>T, p.(D360V)) with dilated cardiomyopathy and recurrent ventricular tachycardia. 30354300 2018
dbSNP: rs754428169
rs754428169
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0042514
Disease:
Tachycardia, Ventricular 		0.010 GeneticVariation BEFREE Additional rare TJP1 variants have been identified in 1 of 40 Italian probands (c.793C>T p.(R265W)) with arrhythmogenic right ventricular cardiomyopathy and in 2 of 43 Dutch/German patients (c. 986C>T, p.(S329L) and c.1079A>T, p.(D360V)) with dilated cardiomyopathy and recurrent ventricular tachycardia. 30354300 2018
dbSNP: rs754428169
rs754428169
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.010 GeneticVariation BEFREE Additional rare TJP1 variants have been identified in 1 of 40 Italian probands (c.793C>T p.(R265W)) with arrhythmogenic right ventricular cardiomyopathy and in 2 of 43 Dutch/German patients (c. 986C>T, p.(S329L) and c.1079A>T, p.(D360V)) with dilated cardiomyopathy and recurrent ventricular tachycardia. 30354300 2018
dbSNP: rs774000638
rs774000638
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.010 GeneticVariation BEFREE Additional rare TJP1 variants have been identified in 1 of 40 Italian probands (c.793C>T p.(R265W)) with arrhythmogenic right ventricular cardiomyopathy and in 2 of 43 Dutch/German patients (c. 986C>T, p.(S329L) and c.1079A>T, p.(D360V)) with dilated cardiomyopathy and recurrent ventricular tachycardia. 30354300 2018