Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.300 | Biomarker | disease | CLINGEN | Measurements of ionic concentrations along with endocochlear potential in wild-type and claudin 14 knockout mice. | 28811056 | 2018 | ||||
|
0.300 | Biomarker | disease | CLINGEN | A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. | 27838790 | 2017 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil. | 27870113 | 2016 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. | 23235333 | 2013 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. | 22246673 | 2012 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Mutations in CLDN14 are associated with different hearing thresholds. | 20811388 | 2010 | ||||
|
0.300 | Biomarker | disease | 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 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. | 12913076 | 2003 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. | 11163249 | 2001 |