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: 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