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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