Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
CCDC8 |
disease |
C1848862 |
GeneticVariation |
0.55 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
CCDC8 |
disease |
C1848862 |
GermlineCausalMutation |
0.55 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
CCDC8 |
disease |
C1848862 |
Biomarker |
0.55 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
CUL7 |
disease |
C1848862 |
Biomarker |
0.5 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
CUL7 |
disease |
C1848862 |
GeneticVariation |
0.5 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
CUL7 |
disease |
C1848862 |
CausalMutation |
0.5 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
OBSL1 |
disease |
C1848862 |
GeneticVariation |
0.2 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
OBSL1 |
disease |
C1848862 |
Biomarker |
0.2 |
orphanet , disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
KLC4 |
disease |
C1848862 |
GeneticVariation |
0.1 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
KLC4 |
disease |
C1848862 |
CausalMutation |
0.1 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
RFX7 |
disease |
C1848862 |
Biomarker |
0.01 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
IGFBP5 |
disease |
C1848862 |
AlteredExpression |
0.01 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
UROD |
disease |
C1848862 |
GeneticVariation |
0.01 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
ANKRA2 |
disease |
C1848862 |
Biomarker |
0.01 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
IGF1 |
disease |
C1848862 |
Biomarker |
0.01 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
IGFBP2 |
disease |
C1848862 |
GeneticVariation |
0.01 |
disgenet |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
BMP2 |
disease |
C1848862 |
Biomarker |
0.01 |
disgenet |
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