TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.450 Biomarker phenotype BEFREE The involvement of TMC1 in hereditary hearing impairment has not been observed in the Polish population so far. 25560804 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.450 Biomarker phenotype 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: C1384666
Disease: hearing impairment
hearing impairment 		0.450 GeneticVariation phenotype BEFREE The progressive phenotype in this family resembles the phenotype previously described for families with dominant TMC1 mutations (DFNA36) rather than that of families with recessive TMC1 mutations (DFNB7/11) which invariably cause severe-to-profound prelingual hearing impairment. 21252500 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.450 GeneticVariation phenotype BEFREE Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. 19180119 2009
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.450 GeneticVariation phenotype BEFREE The prevalence of non-syndromic hearing impairment due to TMC1 in this Pakistani population is 4.4% (95%CI: 1.9, 8.6%). 16134132 2005
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.450 GeneticVariation phenotype BEFREE DFNA36 has one of the earliest onsets and most rapid rates of progression among the autosomal dominant non-syndromic hearing loss phenotypes. 15354000 2004
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.450 CausalMutation phenotype CLINVAR