Gene table of MATN3 : matrilin 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MATN3	OMIM link	Number of associated genes	genes
608728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED	OMIM, HUMSAVAR	link to OMIM	1	MATN3
PS132400	EPIPHYSEAL DYSPLASIA, MULTIPLE	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	COMP, COL9A3, MATN3, COL9A2, SLC26A2, COL9A1
140600	OSTEOARTHRITIS SUSCEPTIBILITY 2	ClinVar, OMIM	link to OMIM	1	MATN3

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
Extracellular matrix organization	R-HSA-1474244	4.91

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
extracellular matrix structural constituent	GO:0005201	5.37
metal ion binding	GO:0046872	1.41
ion binding	GO:0043167	1.36
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
structural molecule activity	GO:0005198	3.1
calcium ion binding	GO:0005509	3.17