Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 20170898

2010