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: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 Biomarker disease CTD_human
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 GeneticVariation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 CausalMutation phenotype CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 Biomarker disease HPO
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 GeneticVariation disease BEFREE TMPRSS3 encodes a transmembrane serine protease that contains both LDLRA and SRCR domains and is mutated in non-syndromic autosomal recessive deafness (DFNB8/10). 12393794 2002
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 GeneticVariation disease BEFREE TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. 17981648 2008
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.040 GeneticVariation disease BEFREE TMPRSS3 mutations are not a common cause of hereditary deafness, the elucidation of its function is nevertheless important for better understanding of hearing, and provide biological targets for therapeutic interventions. 17981648 2008
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: C0339789
Disease: Congenital deafness
Congenital deafness 		0.040 Biomarker disease BEFREE TMPRSS3 defects seem to be an important cause of ARNSHL in Slovenia resulting in uniform phenotype with profound congenital hearing loss, and satisfactory hearing and speech recognition outcome after cochlear implantation. 26036852 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE TMPRSS3 and TNFRSF11B were confirmed to be correlated with distant organ metastasis of breast cancer. 28260080 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 Biomarker disease BEFREE TMPRSS3 and TNFRSF11B were confirmed to be correlated with distant organ metastasis of breast cancer. 28260080 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE TMPRSS3 and TNFRSF11B were confirmed to be correlated with distant organ metastasis of breast cancer. 28260080 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE TMPRSS3 belongs to the large type II transmembrane serine protease (TTSP) family, which plays an important role in the development and progression of tumors. 28409556 2018
CUI: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer 		0.010 Biomarker disease BEFREE A bioinformatics approach (ie, the BIMAS algorithm, National Institutes of Health, http://bimas.dcrt.nih.gov/molbio/hla_bind) was used to identify multiple immunogenic peptides derived from TADG-12 that bind to human leukocyte antigen-A2.1 and elicit peptide-specific human cytotoxic T lymphocyte (CTL) responses in healthy individuals and in patients with advanced stage ovarian cancer. 19117353 2009
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.030 AlteredExpression disease BEFREE A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation. 22446619 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.030 AlteredExpression disease BEFREE A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation. 22446619 2012
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 CausalMutation disease 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
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 GeneticVariation disease UNIPROT A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 16021470 2005
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 CausalMutation disease CLINVAR Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 16283880 2005
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 CausalMutation disease CLINVAR Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. 17551081 2007
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 GeneticVariation disease 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
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 CausalMutation disease 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
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 CausalMutation disease CLINVAR Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity. 19170735 2009