Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.340 | GeneticVariation | disease | BEFREE | DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. | 19603065 | 2010 | ||||
|
0.340 | Biomarker | disease | CLINGEN | CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI. | 24285636 | 2014 | ||||
|
0.340 | Biomarker | disease | CLINGEN | Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. | 26226137 | 2016 | ||||
|
0.340 | Biomarker | disease | CLINGEN | Genomic DNA from an affected member of a consanguineous family segregating recessive, nonsyndromic hearing loss was used to make a library of fragments covering the DFNB79 linkage interval defined by genetic analyses of four pedigrees. | 20170899 | 2010 | ||||
|
0.340 | GeneticVariation | disease | BEFREE | In humans, TPRN mutations cause autosomal recessive nonsyndromic deafness (DFNB79) by an unknown mechanism. | 30159668 | 2019 | ||||
|
0.340 | Biomarker | disease | CLINGEN | Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. | 20170898 | 2010 | ||||
|
0.340 | GeneticVariation | disease | BEFREE | Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. | 20170898 | 2010 | ||||
|
0.340 | Biomarker | disease | CLINGEN | Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). | 27693694 | 2016 | ||||
|
0.340 | Biomarker | disease | BEFREE | Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. | 20170899 | 2010 | ||||
|
0.340 | Biomarker | disease | CLINGEN | The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. | 23340767 | 2013 |