Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Deafness, Autosomal Recessive 1A GJB2 disease C2673759 CausalMutation 0.9 disgenet
Deafness, Autosomal Recessive 1A GJB2 disease C2673759 GeneticVariation 0.9 disgenet
Deafness, Autosomal Recessive 1A GJB2 disease C2673759 Biomarker 0.9 disgenet
Deafness, Autosomal Recessive 1A GJB6 disease C2673759 CausalMutation 0.8 disgenet
Deafness, Autosomal Recessive 1A GJB6 disease C2673759 Biomarker 0.8 disgenet
Deafness, Autosomal Recessive 1A GJB3 disease C2673759 CausalMutation 0.6 disgenet
Deafness, Autosomal Recessive 1A GJB3 disease C2673759 Biomarker 0.6 disgenet
Deafness, Autosomal Recessive 1A SMIM12 disease C2673759 CausalMutation 0.1 disgenet
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