TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
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 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Genetic variants in TMPRSS3 have been causally linked to autosomal recessive nonsyndromic hearing loss (HL) at the DFNB8 and DFNB10 loci. 31016883 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. 28695016 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 26036852 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 26036852 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease BEFREE Mutations in TMPRSS3 encoding a transmembrane serine protease were reported to be associated with two different autosomal recessive nonsyndromic hearing loss (arNSHL) phenotypes, DFNB8 and DFNB10, in terms of residual hearing that may mandate different rehabilitation. 24526180 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss. 25474651 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. 23958653 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. 23255163 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. 21454591 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well. 19170735 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Of the over 30 reported autosomal recessive nonsyndromic hearing loss (NSHL) loci, the typical phenotype is prelingual non-progressive severe to profound hearing loss with the exception of DFNB8, which displays postlingual onset and DFNB13, which is progressive. 12529709 2003
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. 12393794 2002
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649 2002
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649 2002
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease CLINGEN Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. 11137999 2001
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. 10950923 2000
CUI: C0004681
Disease: Bagassosis
Bagassosis 		0.300 Biomarker disease CTD_human Pathway analysis for a genome-wide association study of pneumoconiosis. 25445010 2015
CUI: C0032273
Disease: Pneumoconiosis
Pneumoconiosis 		0.300 Biomarker disease CTD_human Pathway analysis for a genome-wide association study of pneumoconiosis. 25445010 2015
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 PosttranslationalModification disease BEFREE The present study aimed to investigate the functions and regulation mechanism of the transmembrane protease, serine 3 (TMPRSS3), which plays an important role in sensorineural hearing loss. 31408246 2019
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 GeneticVariation disease BEFREE We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian families segregating congenital autosomal recessive sensorineural deafness. 11462234 2001
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 Biomarker disease HPO