Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Glycogen Storage Disease Type IV |
GBE1 |
disease |
C0017923 |
CausalMutation |
1 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
GBE1 |
disease |
C0017923 |
Biomarker |
1 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
GBE1 |
disease |
C0017923 |
AlteredExpression |
1 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
GBE1 |
disease |
C0017923 |
GeneticVariation |
1 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
RBCK1 |
disease |
C0017923 |
CausalMutation |
0.13 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
RBCK1 |
disease |
C0017923 |
GeneticVariation |
0.13 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
RBCK1 |
disease |
C0017923 |
Biomarker |
0.13 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
G6PC |
disease |
C0017923 |
Biomarker |
0.01 |
disgenet |
Glycogen Storage Disease Type IV |
KCNJ3 |
disease |
C0017923 |
AlteredExpression |
0.01 |
disgenet |
Glycogen Storage Disease Type IV |
GAA |
disease |
C0017923 |
Biomarker |
0.01 |
disgenet |
Glycogen Storage Disease Type IV |
SEMA6A |
disease |
C0017923 |
AlteredExpression |
0.01 |
disgenet |
Glycogen Storage Disease Type IV |
KCNJ6 |
disease |
C0017923 |
AlteredExpression |
0.01 |
disgenet |
Glycogen Storage Disease Type IV |
RNF31 |
disease |
C0017923 |
GeneticVariation |
0.01 |
orphanet , disgenet |
Glycogen Storage Disease Type IV |
COL1A2 |
disease |
C0017923 |
GeneticVariation |
0.01 |
disgenet |
Glycogen Storage Disease Type IV |
KCNJ12 |
disease |
C0017923 |
AlteredExpression |
0.01 |
disgenet |
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