Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Mosaic variegated aneuploidy syndrome |
BUB1B |
disease |
C1850343 |
GeneticVariation |
1 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB1B |
disease |
C1850343 |
CausalMutation |
1 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB1B |
disease |
C1850343 |
AlteredExpression |
1 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB1B |
disease |
C1850343 |
Biomarker |
1 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB1B |
disease |
C1850343 |
GermlineCausalMutation |
1 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
CEP57 |
disease |
C1850343 |
CausalMutation |
0.64 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
CEP57 |
disease |
C1850343 |
GeneticVariation |
0.64 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
CEP57 |
disease |
C1850343 |
Biomarker |
0.64 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
CEP57 |
disease |
C1850343 |
GermlineCausalMutation |
0.64 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
TRIP13 |
disease |
C1850343 |
Biomarker |
0.5 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
TRIP13 |
disease |
C1850343 |
GermlineCausalMutation |
0.5 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB1 |
disease |
C1850343 |
GermlineCausalMutation |
0.31 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB1 |
disease |
C1850343 |
GeneticVariation |
0.31 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB3 |
disease |
C1850343 |
GermlineCausalMutation |
0.31 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB3 |
disease |
C1850343 |
GeneticVariation |
0.31 |
orphanet , disgenet |
Mosaic variegated aneuploidy syndrome |
BUB1B-PAK6 |
disease |
C1850343 |
CausalMutation |
0.1 |
disgenet |
Mosaic variegated aneuploidy syndrome |
PAK6 |
disease |
C1850343 |
CausalMutation |
0.1 |
disgenet |
Mosaic variegated aneuploidy syndrome |
CNTN3 |
disease |
C1850343 |
Biomarker |
0.02 |
disgenet |
Mosaic variegated aneuploidy syndrome |
CD19 |
disease |
C1850343 |
Biomarker |
0.01 |
disgenet |
Mosaic variegated aneuploidy syndrome |
APC |
disease |
C1850343 |
GeneticVariation |
0.01 |
disgenet |
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