Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Spondylocostal dysostosis, autosomal recessive |
MESP2 |
disease |
C1837549 |
Biomarker |
0.6 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
MESP2 |
disease |
C1837549 |
GeneticVariation |
0.6 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
MESP2 |
disease |
C1837549 |
CausalMutation |
0.6 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
DLL3 |
disease |
C1837549 |
Biomarker |
0.52 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
DLL3 |
disease |
C1837549 |
GeneticVariation |
0.52 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
RIPPLY2 |
disease |
C1837549 |
Biomarker |
0.5 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
HES7 |
disease |
C1837549 |
GeneticVariation |
0.31 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
HES7 |
disease |
C1837549 |
Biomarker |
0.31 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
LFNG |
disease |
C1837549 |
Biomarker |
0.3 |
orphanet , disgenet |
Spondylocostal dysostosis, autosomal recessive |
TBX6 |
disease |
C1837549 |
Biomarker |
0.2 |
disgenet |
Spondylocostal dysostosis, autosomal recessive |
JAG1 |
disease |
C1837549 |
Biomarker |
0.01 |
disgenet |
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