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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