spondylocostal dysostosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (Human Disease Ontology, DOID_0050568)
Similar Terms
Downloads & Tools

Genes

33 genes co-occuring with the disease spondylocostal dysostosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
DLL3 delta-like 3 (Drosophila) 2.99883
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2 2.83664
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 2.5589
HES7 hes family bHLH transcription factor 7 2.33394
NOTCH1 notch 1 1.37817
TBX6 T-box 6 1.33894
BMPER BMP binding endothelial regulator 1.14051
POFUT1 protein O-fucosyltransferase 1 1.1253
NOTCH2 notch 2 1.05303
NOTCH2NL notch 2 N-terminal like 1.05009
PAX1 paired box 1 1.02566
GNLY granulysin 1.0244
COG1 component of oligomeric golgi complex 1 1.01259
ARSD arylsulfatase D 0.985585
JAG1 jagged 1 0.937459
RBPJ recombination signal binding protein for immunoglobulin kappa J region 0.895
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.859771
GDF6 growth differentiation factor 6 0.847898
PAX9 paired box 9 0.730571
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 0.675909
NOTCH3 notch 3 0.575772
LRP6 low density lipoprotein receptor-related protein 6 0.575383
NOTCH4 notch 4 0.545868
SCD5 stearoyl-CoA desaturase 5 0.521502
DLK1 delta-like 1 homolog (Drosophila) 0.520346
FGF8 fibroblast growth factor 8 (androgen-induced) 0.503058
WNT3A wingless-type MMTV integration site family, member 3A 0.434148
FGF1 fibroblast growth factor 1 (acidic) 0.433397
RYR1 ryanodine receptor 1 (skeletal) 0.299812
PTER phosphotriesterase related 0.294772
DLL1 delta-like 1 (Drosophila) 0.260538
MMD monocyte to macrophage differentiation-associated 0.200982
SMAD2 SMAD family member 2 0.166995