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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