OTOF, otoferlin, 9381

N. diseases: 34; N. variants: 97
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
0.010 GeneticVariation disease BEFREE We focus here on the otoferlin gene underlying DFNB9, one of the most frequent genetic forms of congenital deafness. 30782832 2019