Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
0.340 GeneticVariation disease BEFREE In humans, TPRN mutations cause autosomal recessive nonsyndromic deafness (DFNB79) by an unknown mechanism. 30159668 2019
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
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
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
0.340 Biomarker disease CLINGEN Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). 27693694 2016
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
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
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
0.340 Biomarker disease CLINGEN The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. 23340767 2013
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
0.340 GeneticVariation disease BEFREE DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. 19603065 2010
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
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
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
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
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
0.340 Biomarker disease CLINGEN Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 20170898 2010
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
0.340 GeneticVariation disease BEFREE Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 20170898 2010