Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Leukodystrophy, Hypomyelinating, 2 GJC2 disease C1837355 Biomarker 0.93 disgenet
Leukodystrophy, Hypomyelinating, 2 GJC2 disease C1837355 GeneticVariation 0.93 disgenet
Leukodystrophy, Hypomyelinating, 2 GJC2 disease C1837355 GermlineCausalMutation 0.93 disgenet
Leukodystrophy, Hypomyelinating, 2 GJC2 disease C1837355 CausalMutation 0.93 disgenet
Leukodystrophy, Hypomyelinating, 2 SNAP29 disease C1837355 CausalMutation 0.1 disgenet
Leukodystrophy, Hypomyelinating, 2 PI4KA disease C1837355 CausalMutation 0.1 disgenet
Leukodystrophy, Hypomyelinating, 2 PLP1 disease C1837355 Biomarker 0.02 disgenet
Leukodystrophy, Hypomyelinating, 2 PLP1 disease C1837355 GeneticVariation 0.02 disgenet
Leukodystrophy, Hypomyelinating, 2 NKX6-2 NA C1837355 NA NA orphanet
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