Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Charcot-Marie-Tooth disease, X-linked, 1 |
GJB1 |
disease |
C0393808 |
CausalMutation |
1 |
orphanet , disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
GJB1 |
disease |
C0393808 |
Biomarker |
1 |
orphanet , disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
GJB1 |
disease |
C0393808 |
AlteredExpression |
1 |
orphanet , disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
GJB1 |
disease |
C0393808 |
GeneticVariation |
1 |
orphanet , disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
RNMT |
disease |
C0393808 |
GeneticVariation |
0.04 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
MPZ |
disease |
C0393808 |
GeneticVariation |
0.04 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
PMP22 |
disease |
C0393808 |
GeneticVariation |
0.03 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
PMP22 |
disease |
C0393808 |
Biomarker |
0.03 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
TTR |
disease |
C0393808 |
GeneticVariation |
0.01 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
SOX10 |
disease |
C0393808 |
Biomarker |
0.01 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
TNF |
disease |
C0393808 |
Biomarker |
0.01 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
PGK1 |
disease |
C0393808 |
GeneticVariation |
0.01 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
DMPK |
disease |
C0393808 |
GeneticVariation |
0.01 |
disgenet |
Charcot-Marie-Tooth disease, X-linked, 1 |
IL6 |
disease |
C0393808 |
Biomarker |
0.01 |
disgenet |
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