Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Langer mesomelic dysplasia |
SHOX |
disease |
C0432230 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Langer mesomelic dysplasia |
SHOX |
disease |
C0432230 |
CausalMutation |
0.8 |
orphanet , disgenet |
Langer mesomelic dysplasia |
SHOX |
disease |
C0432230 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Langer mesomelic dysplasia |
SHOX |
disease |
C0432230 |
Biomarker |
0.8 |
orphanet , disgenet |
Langer mesomelic dysplasia |
EGFR |
disease |
C0432230 |
GeneticVariation |
0.02 |
disgenet |
Langer mesomelic dysplasia |
EGFR |
disease |
C0432230 |
Biomarker |
0.02 |
disgenet |
Langer mesomelic dysplasia |
F2R |
disease |
C0432230 |
GeneticVariation |
0.02 |
disgenet |
Langer mesomelic dysplasia |
NR1I2 |
disease |
C0432230 |
GeneticVariation |
0.02 |
disgenet |
Langer mesomelic dysplasia |
PWAR1 |
disease |
C0432230 |
GeneticVariation |
0.02 |
disgenet |
Langer mesomelic dysplasia |
SLC52A2 |
disease |
C0432230 |
GeneticVariation |
0.02 |
disgenet |
Langer mesomelic dysplasia |
TAS2R31 |
disease |
C0432230 |
GeneticVariation |
0.01 |
disgenet |
Langer mesomelic dysplasia |
SHOX2 |
disease |
C0432230 |
GeneticVariation |
0.01 |
disgenet |
Langer mesomelic dysplasia |
GH1 |
disease |
C0432230 |
GeneticVariation |
0.01 |
disgenet |
Langer mesomelic dysplasia |
LOC100996724 |
disease |
C0432230 |
GeneticVariation |
0.01 |
disgenet |
Langer mesomelic dysplasia |
PDE4DIP |
disease |
C0432230 |
GeneticVariation |
0.01 |
disgenet |
Langer mesomelic dysplasia |
KRAS |
disease |
C0432230 |
Biomarker |
0.01 |
disgenet |
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