Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B5 disease C1847967 Biomarker 0.81 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B5 disease C1847967 GermlineCausalMutation 0.81 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B5 disease C1847967 CausalMutation 0.81 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B5 disease C1847967 GeneticVariation 0.81 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B4 disease C1847967 GeneticVariation 0.74 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B4 disease C1847967 GermlineCausalMutation 0.74 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B4 disease C1847967 Biomarker 0.74 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B2 disease C1847967 GermlineCausalMutation 0.64 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B2 disease C1847967 CausalMutation 0.64 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B2 disease C1847967 Biomarker 0.64 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B2 disease C1847967 GeneticVariation 0.64 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B1 disease C1847967 Biomarker 0.55 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B1 disease C1847967 GeneticVariation 0.55 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B1 disease C1847967 GermlineCausalMutation 0.55 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B3 disease C1847967 Biomarker 0.5 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2B3 disease C1847967 GermlineCausalMutation 0.5 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure AARS2 disease C1847967 Biomarker 0.32 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure AARS2 disease C1847967 GeneticVariation 0.32 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure AARS2 disease C1847967 GermlineCausalMutation 0.32 orphanet , disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2S2 disease C1847967 GeneticVariation 0.04 disgenet
Vanishing White Matter Leukodystrophy with Ovarian Failure EIF2S2 disease C1847967 Biomarker 0.04 disgenet
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