Pseudoachondroplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (Human Disease Ontology, DOID_0080047)
External Link https://www.disgenet.org/browser/0/1/0/C0410538
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Genes

19 genes associated with the disease Pseudoachondroplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
CANX calnexin
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
DCN decorin
DMD dystrophin
EPHA3 EPH receptor A3
FGFR3 fibroblast growth factor receptor 3
GLS glutaminase
HAPLN1 hyaluronan and proteoglycan link protein 1
MATN3 matrilin 3
MMRN1 multimerin 1
P4HB prolyl 4-hydroxylase, beta polypeptide
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SPARC secreted protein, acidic, cysteine-rich (osteonectin)