Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Measurements of ionic concentrations along with endocochlear potential in wild-type and claudin 14 knockout mice. 28811056

2018
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. 27838790

2017
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil. 27870113

2016
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. 23235333

2013
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. 22246673

2012
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Mutations in CLDN14 are associated with different hearing thresholds. 20811388

2010
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Ectopic expression in L mouse fibroblasts (LM cells) of wild-type CLDN14 protein induced the formation of tight junctions, while both the c.254T>A (p.V85D) mutant, previously identified in a Pakistani family, and the c.301 G>A (p.G101R) mutant, identified in this study through the screen of 183 Spanish and Greek patients affected with sporadic nonsyndromic deafness, failed to form such junctions. 15880785

2005
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. 12913076

2003
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. 11163249

2001