spondyloepiphyseal dysplasia congenita Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14789)
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Genes

18 genes co-occuring with the disease spondyloepiphyseal dysplasia congenita in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
COL2A1 collagen, type II, alpha 1 2.621
GALNS galactosamine (N-acetyl)-6-sulfatase 1.11814
LAX1 lymphocyte transmembrane adaptor 1 1.00921
FGFR3 fibroblast growth factor receptor 3 0.901978
COMP cartilage oligomeric matrix protein 0.898282
COL10A1 collagen, type X, alpha 1 0.8741
DDR2 discoidin domain receptor tyrosine kinase 2 0.863046
ASPN asporin 0.776568
COL3A1 collagen, type III, alpha 1 0.641039
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.637495
IHH indian hedgehog 0.607714
HTRA1 HtrA serine peptidase 1 0.550134
FLNA filamin A, alpha 0.398216
COL1A1 collagen, type I, alpha 1 0.381481
RUNX2 runt-related transcription factor 2 0.341639
MMP13 matrix metallopeptidase 13 0.326281
COL1A2 collagen, type I, alpha 2 0.324458
GGT2 gamma-glutamyltransferase 2 0.285086