Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spastic Paraplegia 18, Autosomal Recessive | ERLIN2 | disease | C2749936 | CausalMutation | 0.7 | orphanet , disgenet |
Spastic Paraplegia 18, Autosomal Recessive | ERLIN2 | disease | C2749936 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
Spastic Paraplegia 18, Autosomal Recessive | ERLIN2 | disease | C2749936 | GeneticVariation | 0.7 | orphanet , disgenet |
Spastic Paraplegia 18, Autosomal Recessive | ERLIN2 | disease | C2749936 | Biomarker | 0.7 | orphanet , disgenet |
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