Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 GeneticVariation disease BEFREE Oxysterol-binding protein like 2 (OSBPL2) was identified as a novel causal gene for autosomal dominant nonsyndromic hearing loss. 31427568 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 GeneticVariation disease BEFREE Based on this study, OSBPL2 was identified as an excellent novel candidate gene for autosomal dominant nonsyndromic hearing loss; this study is the first to implicate OSBPL2 mutations in autosomal dominant nonsyndromic hearing loss. 25077649 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 Biomarker disease CLINGEN Based on this study, OSBPL2 was identified as an excellent novel candidate gene for autosomal dominant nonsyndromic hearing loss; this study is the first to implicate OSBPL2 mutations in autosomal dominant nonsyndromic hearing loss. 25077649 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 Biomarker disease CLINGEN OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 25759012 2015