Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Cardiofaciocutaneous syndrome |
MAP2K1 |
disease |
C1275081 |
GeneticVariation |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
BRAF |
disease |
C1275081 |
CausalMutation |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
MAP2K1 |
disease |
C1275081 |
CausalMutation |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
BRAF |
disease |
C1275081 |
GermlineCausalMutation |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
BRAF |
disease |
C1275081 |
Biomarker |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
MAP2K1 |
disease |
C1275081 |
Biomarker |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
MAP2K1 |
disease |
C1275081 |
GermlineCausalMutation |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
BRAF |
disease |
C1275081 |
AlteredExpression |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
BRAF |
disease |
C1275081 |
GeneticVariation |
1 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
MAP2K2 |
disease |
C1275081 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
KRAS |
disease |
C1275081 |
CausalMutation |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
KRAS |
disease |
C1275081 |
Biomarker |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
KRAS |
disease |
C1275081 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
MAP2K2 |
disease |
C1275081 |
CausalMutation |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
MAP2K2 |
disease |
C1275081 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
KRAS |
disease |
C1275081 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
MAP2K2 |
disease |
C1275081 |
Biomarker |
0.8 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
HRAS |
disease |
C1275081 |
GeneticVariation |
0.57 |
disgenet |
Cardiofaciocutaneous syndrome |
HRAS |
disease |
C1275081 |
Biomarker |
0.57 |
disgenet |
Cardiofaciocutaneous syndrome |
PTPN11 |
disease |
C1275081 |
GeneticVariation |
0.57 |
disgenet |
Cardiofaciocutaneous syndrome |
PTPN11 |
disease |
C1275081 |
Biomarker |
0.57 |
disgenet |
Cardiofaciocutaneous syndrome |
NRAS |
disease |
C1275081 |
Biomarker |
0.5 |
disgenet |
Cardiofaciocutaneous syndrome |
RAF1 |
disease |
C1275081 |
GeneticVariation |
0.33 |
disgenet |
Cardiofaciocutaneous syndrome |
RAF1 |
disease |
C1275081 |
Biomarker |
0.33 |
disgenet |
Cardiofaciocutaneous syndrome |
SOS1 |
disease |
C1275081 |
GeneticVariation |
0.33 |
disgenet |
Cardiofaciocutaneous syndrome |
SOS1 |
disease |
C1275081 |
Biomarker |
0.33 |
disgenet |
Cardiofaciocutaneous syndrome |
SHOC2 |
disease |
C1275081 |
GeneticVariation |
0.31 |
disgenet |
Cardiofaciocutaneous syndrome |
SHOC2 |
disease |
C1275081 |
Biomarker |
0.31 |
disgenet |
Cardiofaciocutaneous syndrome |
LZTR1 |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
PPP1CB |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
RASA1 |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
RASA2 |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
RRAS |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
RIT1 |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
SOS2 |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
MRAS |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
A2ML1 |
disease |
C1275081 |
Biomarker |
0.3 |
disgenet |
Cardiofaciocutaneous syndrome |
MAPK1 |
disease |
C1275081 |
GeneticVariation |
0.04 |
disgenet |
Cardiofaciocutaneous syndrome |
EPHB2 |
disease |
C1275081 |
GeneticVariation |
0.04 |
disgenet |
Cardiofaciocutaneous syndrome |
EPHB2 |
disease |
C1275081 |
Biomarker |
0.04 |
disgenet |
Cardiofaciocutaneous syndrome |
MAPK1 |
disease |
C1275081 |
Biomarker |
0.04 |
disgenet |
Cardiofaciocutaneous syndrome |
SGSM3 |
disease |
C1275081 |
GeneticVariation |
0.03 |
disgenet |
Cardiofaciocutaneous syndrome |
MAP2K7 |
disease |
C1275081 |
GeneticVariation |
0.03 |
disgenet |
Cardiofaciocutaneous syndrome |
SGSM3 |
disease |
C1275081 |
Biomarker |
0.03 |
disgenet |
Cardiofaciocutaneous syndrome |
MAP2K7 |
disease |
C1275081 |
Biomarker |
0.03 |
disgenet |
Cardiofaciocutaneous syndrome |
ZHX2 |
disease |
C1275081 |
GeneticVariation |
0.02 |
disgenet |
Cardiofaciocutaneous syndrome |
ZHX2 |
disease |
C1275081 |
Biomarker |
0.02 |
disgenet |
Cardiofaciocutaneous syndrome |
NPPC |
disease |
C1275081 |
Biomarker |
0.01 |
disgenet |
Cardiofaciocutaneous syndrome |
CFC1 |
disease |
C1275081 |
Biomarker |
0.01 |
orphanet , disgenet |
Cardiofaciocutaneous syndrome |
YWHAZ |
disease |
C1275081 |
Biomarker |
0.01 |
disgenet |
Cardiofaciocutaneous syndrome |
KANSL1 |
disease |
C1275081 |
AlteredExpression |
0.01 |
disgenet |
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