Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteopetrosis, Autosomal Recessive 6 PLEKHM1 disease C1969093 Biomarker 0.8 disgenet
Osteopetrosis, Autosomal Recessive 6 PLEKHM1 disease C1969093 GermlineCausalMutation 0.8 disgenet
Osteopetrosis, Autosomal Recessive 6 CLCN7 disease C1969093 GermlineCausalMutation 0.3 disgenet
Osteopetrosis, Autosomal Recessive 6 TCIRG1 disease C1969093 GermlineCausalMutation 0.3 disgenet
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