TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness
0.010 GeneticVariation phenotype LHGDN We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. 15447792 2004