TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: Deafness, Autosomal Recessive 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease CLINGEN Tmc gene therapy restores auditory function in deaf mice. 26157030 2015
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease CLINGEN Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2. 25114259 2014
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease GENOMICS_ENGLAND 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: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 GeneticVariation disease CLINVAR A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. 23208854 2013
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene. 22330676 2012
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 CausalMutation disease CLINVAR Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. 21252500 2011
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease CLINGEN Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes. 22105175 2011
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 GeneticVariation disease CLINVAR Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. 21252500 2011
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease CLINGEN Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. 18616530 2008
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 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: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease CLINGEN Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 11850618 2002
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 GeneticVariation disease UNIPROT Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 11850618 2002
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD The deafness locus (dn) maps to mouse chromosome 19. 7719036 1995
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD Degeneration followed by partial regeneration of the organ of Corti in deafness (dn/dn) mice. 1728569 1992
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD Distortion product otoacoustic emissions in hearing-impaired mutant mice. 4067076 1985
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD Electrically-evoked responses in animals with progressive spiral ganglion degeneration. 6541219 1984
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD Early degeneration of sensory and ganglion cells in the inner ear of mice with uncomplicated genetic deafness (dn): preliminary observations. 6662828 1983
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD Preservation of central auditory function in the deafness mouse. 7093705 1982
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease MGD The nature of inherited deafness in deafness mice. 7432512 1980
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		0.900 Biomarker disease CTD_human