Gene table of COMP : cartilage oligomeric matrix protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COMP	OMIM link	Number of associated genes	genes
177170	PSEUDOACHONDROPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COMP
PS132400	EPIPHYSEAL DYSPLASIA, MULTIPLE	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	COMP, COL9A3, MATN3, COL9A2, SLC26A2, COL9A1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
ECM proteoglycans	R-HSA-3000178	6.75
Integrin cell surface interactions	R-HSA-216083	6.57
Extracellular matrix organization	R-HSA-1474244	4.91

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sulfur compound binding	GO:1901681	4.32
glycoprotein binding	GO:0001948	5.11
extracellular matrix structural constituent	GO:0005201	5.37
metal ion binding	GO:0046872	1.41
protease binding	GO:0002020	5.08
cation binding	GO:0043169	1.4
carbohydrate derivative binding	GO:0097367	2.03
collagen binding	GO:0005518	5.58
enzyme binding	GO:0019899	2.27
ion binding	GO:0043167	1.36
glycosaminoglycan binding	GO:0005539	4.42
heparan sulfate proteoglycan binding	GO:0043395	6.85
proteoglycan binding	GO:0043394	6.34
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein complex binding	GO:0032403	3.09
structural molecule activity	GO:0005198	3.1
heparin binding	GO:0008201	4.68
calcium ion binding	GO:0005509	3.17