Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Epidermolysis Bullosa Dystrophica |
COL7A1 |
disease |
C0079294 |
Biomarker |
0.9 |
orphanet , disgenet |
Epidermolysis Bullosa Dystrophica |
COL7A1 |
disease |
C0079294 |
CausalMutation |
0.9 |
orphanet , disgenet |
Epidermolysis Bullosa Dystrophica |
COL7A1 |
disease |
C0079294 |
GeneticVariation |
0.9 |
orphanet , disgenet |
Epidermolysis Bullosa Dystrophica |
MMP1 |
disease |
C0079294 |
GeneticVariation |
0.31 |
disgenet |
Epidermolysis Bullosa Dystrophica |
MMP1 |
disease |
C0079294 |
Biomarker |
0.31 |
disgenet |
Epidermolysis Bullosa Dystrophica |
GRIP1 |
disease |
C0079294 |
Biomarker |
0.2 |
disgenet |
Epidermolysis Bullosa Dystrophica |
NHS |
disease |
C0079294 |
Biomarker |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
IGFBP3 |
disease |
C0079294 |
AlteredExpression |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
TNF |
disease |
C0079294 |
Biomarker |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
ERBIN |
disease |
C0079294 |
AlteredExpression |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
EGFR |
disease |
C0079294 |
AlteredExpression |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
IFNG |
disease |
C0079294 |
Biomarker |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
STS |
disease |
C0079294 |
GeneticVariation |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
IL2 |
disease |
C0079294 |
AlteredExpression |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
IL6 |
disease |
C0079294 |
AlteredExpression |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
FN1 |
disease |
C0079294 |
GeneticVariation |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
BMP1 |
disease |
C0079294 |
GeneticVariation |
0.01 |
disgenet |
Epidermolysis Bullosa Dystrophica |
COL1A1 |
disease |
C0079294 |
GeneticVariation |
0.01 |
disgenet |
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