TPRN, taperin, 286262

N. diseases: 7; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 GeneticVariation disease BEFREE In humans, TPRN mutations cause autosomal recessive nonsyndromic deafness (DFNB79) by an unknown mechanism. 30159668 2019
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 Biomarker disease MGD Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice. 27693694 2016
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 Biomarker disease GENOMICS_ENGLAND Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. 20170899 2010
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 Biomarker disease CTD_human
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 CausalMutation disease CLINVAR
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 GeneticVariation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype GENOMICS_ENGLAND Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. 20170899 2010
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 GeneticVariation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 CausalMutation phenotype CLINVAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE In humans, TPRN mutations cause autosomal recessive nonsyndromic deafness (DFNB79) by an unknown mechanism. 30159668 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). 27693694 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. 23340767 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. 19603065 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 20170898 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 20170898 2010
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.200 Biomarker disease MGD Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice. 27693694 2016
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.100 Biomarker disease HPO