Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia FA2H disease C3496228 CausalMutation 0.95 orphanet , disgenet
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia FA2H disease C3496228 Biomarker 0.95 orphanet , disgenet
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia FA2H disease C3496228 GeneticVariation 0.95 orphanet , disgenet
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia FA2H disease C3496228 GermlineCausalMutation 0.95 orphanet , disgenet
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia PLB1 disease C3496228 GeneticVariation 0.01 disgenet
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia COASY disease C3496228 Biomarker 0.01 disgenet
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia PLA2G1B disease C3496228 GeneticVariation 0.01 disgenet
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia YWHAZ disease C3496228 GeneticVariation 0.01 disgenet
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