Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1159
Gene Symbol: CKMT1B
CKMT1B
0.100 GeneticVariation disease CLINVAR Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. 26746617 2016
Entrez Id: 1159
Gene Symbol: CKMT1B
CKMT1B
0.100 GeneticVariation disease CLINVAR DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. 26011646 2015
Entrez Id: 1159
Gene Symbol: CKMT1B
CKMT1B
0.100 CausalMutation disease CLINVAR Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. 25157971 2014
Entrez Id: 1159
Gene Symbol: CKMT1B
CKMT1B
0.100 CausalMutation disease CLINVAR Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. 21078986 2010
Entrez Id: 1159
Gene Symbol: CKMT1B
CKMT1B
0.100 GeneticVariation disease CLINVAR Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 11687802 2001