TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
Disease: Deafness, Autosomal Recessive 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854414
Disease: Deafness, Autosomal Recessive 10
Deafness, Autosomal Recessive 10 		0.020 Biomarker disease BEFREE Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, was found to be responsible for both the DFNB8 and DFNB10 phenotypes. 11907649 2002
CUI: C1854414
Disease: Deafness, Autosomal Recessive 10
Deafness, Autosomal Recessive 10 		0.020 Biomarker disease BEFREE Here we report the identification of a new transmembrane serine protease (TMPRSS3; also known as ECHOS1) expressed in many tissues, including fetal cochlea, which is mutated in the families used to describe both the DFNB10 and DFNB8 loci. 11137999 2001