Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Exostoses, Multiple Hereditary |
EXT1 |
disease |
C0015306 |
Biomarker |
1 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
EXT1 |
disease |
C0015306 |
CausalMutation |
1 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
EXT1 |
disease |
C0015306 |
PosttranslationalModification |
1 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
EXT1 |
disease |
C0015306 |
GeneticVariation |
1 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
EXT1 |
disease |
C0015306 |
AlteredExpression |
1 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
EXT2 |
disease |
C0015306 |
AlteredExpression |
0.7 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
EXT2 |
disease |
C0015306 |
GeneticVariation |
0.7 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
EXT2 |
disease |
C0015306 |
Biomarker |
0.7 |
orphanet , disgenet |
Exostoses, Multiple Hereditary |
PTPN11 |
disease |
C0015306 |
Biomarker |
0.3 |
disgenet |
Exostoses, Multiple Hereditary |
SHOX |
disease |
C0015306 |
Biomarker |
0.1 |
disgenet |
Exostoses, Multiple Hereditary |
EXT3 |
disease |
C0015306 |
Biomarker |
0.05 |
disgenet |
Exostoses, Multiple Hereditary |
EXT3 |
disease |
C0015306 |
GeneticVariation |
0.05 |
disgenet |
Exostoses, Multiple Hereditary |
HPSE |
disease |
C0015306 |
Biomarker |
0.03 |
disgenet |
Exostoses, Multiple Hereditary |
HPSE |
disease |
C0015306 |
AlteredExpression |
0.03 |
disgenet |
Exostoses, Multiple Hereditary |
TRPS1 |
disease |
C0015306 |
GeneticVariation |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
MMP12 |
disease |
C0015306 |
Biomarker |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
EXTL3 |
disease |
C0015306 |
GeneticVariation |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
SDC2 |
disease |
C0015306 |
Biomarker |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
EXTL2 |
disease |
C0015306 |
Biomarker |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
EXTL3 |
disease |
C0015306 |
Biomarker |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
MMP12 |
disease |
C0015306 |
GeneticVariation |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
EXTL2 |
disease |
C0015306 |
GeneticVariation |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
SDC2 |
disease |
C0015306 |
GeneticVariation |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
TRPS1 |
disease |
C0015306 |
Biomarker |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
HSPG2 |
disease |
C0015306 |
GeneticVariation |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
HSPG2 |
disease |
C0015306 |
Biomarker |
0.02 |
disgenet |
Exostoses, Multiple Hereditary |
SLC30A8 |
disease |
C0015306 |
AlteredExpression |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
SAMD12 |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
ACVR2A |
disease |
C0015306 |
AlteredExpression |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
SFN |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
STATH |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
LEMD3 |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
CALCA |
disease |
C0015306 |
AlteredExpression |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
UXS1 |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
TCF7L2 |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
MSX2 |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
SLC35B2 |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
NOTCH1 |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
SULT1E1 |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
MAP3K8 |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
LDLR |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
ACAN |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
FGF9 |
disease |
C0015306 |
AlteredExpression |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
GPC4 |
disease |
C0015306 |
Biomarker |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
ALX4 |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
Exostoses, Multiple Hereditary |
CTNNB1 |
disease |
C0015306 |
GeneticVariation |
0.01 |
disgenet |
click here to return to the previous page |