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: rs773780151
rs773780151
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 GeneticVariation UNIPROT
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: 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: 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 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 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, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. 17981648 2008
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: 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: 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: 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: rs56264519
rs56264519
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs387906915
rs387906915
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 16021470 2005
dbSNP: rs387906915
rs387906915
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. 11462234 2001
dbSNP: rs387906915
rs387906915
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT 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: 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: rs387906915
rs387906915
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649 2002
dbSNP: rs387906915
rs387906915
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. 12393794 2002
dbSNP: rs387906915
rs387906915
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. 11424922 2001
dbSNP: rs3814903
rs3814903
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). 25029565 2014
dbSNP: rs3814903
rs3814903
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). 25029565 2014
dbSNP: rs28939084
rs28939084
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT 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: rs28939084
rs28939084
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.800 GeneticVariation UNIPROT Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649 2002