TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: Recessive sensorineural hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0395973
Disease: Recessive sensorineural hearing loss
Recessive sensorineural hearing loss 		0.020 GeneticVariation disease BEFREE We identified a novel TMC1 mutation in exon 20, c.1979C>T, p.P660L, which segregated with prelingual autosomal recessive sensorineural hearing loss. 26822030 2016
CUI: C0395973
Disease: Recessive sensorineural hearing loss
Recessive sensorineural hearing loss 		0.020 GeneticVariation disease BEFREE Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. 19187973 2009