TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE Here, we present our findings on two families with transmembrane channel like 1 (TMC1) gene variants of the 47 families with nonsyndromic hearing loss (NSHL) studied. 28862181 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss. 26822030 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Tmc1 Point Mutation Affects Ca2+ Sensitivity and Block by Dihydrostreptomycin of the Mechanoelectrical Transducer Current of Mouse Outer Hair Cells. 26758827 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. 26346818 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment. 25560804 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss linked to the loci of DFNA36 and DFNB7/11, respectively. 26079994 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss linked to the loci of DFNA36 and DFNB7/11, respectively. 26079994 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 24827932 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease BEFREE TMC1, a second-tier deafness gene below GJB2, is an appreciable cause of recessive nonsyndromic hearing loss (DFNB7/11) in North Africa, the Middle East, and parts of South Asia. 22288896 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. 20373850 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. 20447146 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE We ascertained a third North American family segregating autosomal dominant nonsyndromic hearing impairment at the DFNA36 locus. 19180119 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN We ascertained a third North American family segregating autosomal dominant nonsyndromic hearing impairment at the DFNA36 locus. 19180119 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1. 18804553 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE We analyzed 3 microsatellite markers linked to the TMC1 and TMC2 genes in 85 Tunisian families with autosomal recessive nonsyndromic HI and without mutations in the protein-coding region of the GJB2 gene. 18259073 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. 17250663 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36. 16648588 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. 16627570 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. 16287143 2005
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease BEFREE The finding of TMC1 mutations contributing to deafness in Sudan confirms and extends previous reports on the role of TMC1 in recessive nonsyndromic deafness and shows that deafness-causing TMC1 mutations may occur in various ethnic groups. 15605408 2005
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. 11850623 2002
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 11850618 2002
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 GeneticVariation disease BEFREE Although this nonsyndromic-hearing-loss (NSHL) locus maps to the same cytogenetic interval as DFNB7, it does not overlap the currently defined DFNB7 interval and may represent (1) a novel form of NSHL in close proximity to DFNB7 or (2) a relocalization of the DFNB7 interval to a region telomeric to its reported location. 8755925 1996