TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28939084
rs28939084
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906915
rs387906915
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		C 0.800 CausalMutation CLINVAR
dbSNP: rs181949335
rs181949335
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. 28246597 2017
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing. 28263784 2017
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss. 26408194 2016
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 26036852 2016
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 26036852 2016
dbSNP: rs181949335
rs181949335
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. 24526180 2014
dbSNP: rs181949335
rs181949335
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. 23958653 2013
dbSNP: rs147231991
rs147231991
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. 22975204 2012
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 21534946 2012
dbSNP: rs147231991
rs147231991
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 21786053 2011
dbSNP: rs181949335
rs181949335
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 21786053 2011
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 21786053 2011
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 21786053 2011
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity. 19170735 2009
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. 17981648 2008
dbSNP: rs181949335
rs181949335
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. 17551081 2007
dbSNP: rs147231991
rs147231991
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 16283880 2005
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 15447792 2004
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. 12920079 2003
dbSNP: rs727503493
rs727503493
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649 2002
dbSNP: rs1060499811
rs1060499811
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1237955948
rs1237955948
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR