TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 Biomarker phenotype BEFREE In particular 5 novel alleles were identified in the following genes LOXHD1, TMPRSS3, TECTA and MYO15A already associated with hearing impairment. 24657061 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. 24416283 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 Biomarker phenotype GENOMICS_ENGLAND Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. 23255163 2013
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE In order to elucidate if the TMPRSS3 gene is responsible for ARNSHI in 80 Moroccan families with non-syndromic hearing impairment, the gene was sequenced using DNA samples from these families. 22382023 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 21534946 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results. 17551081 2007
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 AlteredExpression phenotype LHGDN Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. 12920079 2003
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 CausalMutation phenotype CLINVAR