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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