Disease table of EPIPHYSEAL DYSPLASIA, MULTIPLE OMIM ID: PS132400

Gene-disease associations table

Gene	Associated with EPIPHYSEAL DYSPLASIA, MULTIPLE in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
MATN3	ClinVar, OMIM, HUMSAVAR	HGNC link	2p24.1	3	PS132400, 608728, 140600
COMP	ClinVar, OMIM, HUMSAVAR	HGNC link	19p13.11	2	177170, PS132400
COL9A2	ClinVar, OMIM	HGNC link	1p34.2	3	PS132400, PS108300, 603932
COL9A3	ClinVar, OMIM, HUMSAVAR	HGNC link	20q13.33	2	PS132400, 603932
COL9A1	ClinVar, OMIM	HGNC link	6q13	2	PS132400, PS108300
SLC26A2	ClinVar, OMIM, HUMSAVAR	HGNC link	5q32	4	PS132400, 222600, PS200600, PS108720

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
COMP	YES	3	SP1, HDAC1, ZBTB7A	0

Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
MATN3	COMP	Yes	binding	3	MATN4, MATN1, ACAN
COMP	COL9A2	No	-	2	ITGA11, ITGB1
COMP	COL9A3	No	-	2	ITGA11, ITGB1
COMP	COL9A1	No	-	2	ITGA11, ITGB1
COL9A2	COL9A3	Yes	binding	35	COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL11A1, COL4A6, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A1, COL22A1, COL6A2, COL5A2, COL17A1, COL4A5, COL10A1, COL8A2, COL5A1, COL6A3
COL9A2	COL9A1	Yes	binding	35	COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL11A1, COL4A6, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL22A1, COL6A2, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2
COL9A3	COL9A1	Yes	binding	35	COL24A1, COL8A1, COL14A1, COL7A1, COL12A1, COL11A1, COL4A6, ITGA11, COL2A1, ITGB1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL23A1, COL18A1, COL15A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A2, COL22A1, COL6A2, COL5A2, COL17A1, COL4A5, COL10A1, COL8A2, COL5A1, COL6A3

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
COL9A2	COL9A3	Yes	5	COL9A2, COL9A3, COL1A2, COL9A1, COL1A1
COL9A2	COL9A1	Yes	5	COL9A2, COL9A3, COL1A2, COL9A1, COL1A1
COL9A3	COL9A1	Yes	5	COL9A2, COL9A3, COL1A2, COL9A1, COL1A1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Protein digestion and absorption	hsa04974	6.2	3	COL9A1, COL9A2, COL9A3

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Digestive system	NEW	4.12	0.012	COL9A1, COL9A2, COL9A3
Protein digestion and absorption (hsa04974)	-	6.2	0.0	COL9A1, COL9A2, COL9A3

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
ECM proteoglycans	R-HSA-3000178	6.75	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
Extracellular matrix organization	R-HSA-1474244	4.91	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
Integrin cell surface interactions	R-HSA-216083	6.57	4	COL9A1, COL9A2, COL9A3, COMP
Degradation of the extracellular matrix	R-HSA-1474228	6.11	3	COL9A1, COL9A2, COL9A3
Collagen degradation	R-HSA-1442490	7.03	3	COL9A1, COL9A2, COL9A3
NCAM signaling for neurite out-growth	R-HSA-375165	4.9	3	COL9A1, COL9A2, COL9A3
NCAM1 interactions	R-HSA-419037	7.59	3	COL9A1, COL9A2, COL9A3
Collagen formation	R-HSA-1474290	6.56	3	COL9A1, COL9A2, COL9A3
Signal Transduction	R-HSA-162582	1.78	3	COL9A1, COL9A2, COL9A3
Signaling by PDGF	R-HSA-186797	4.53	3	COL9A1, COL9A2, COL9A3
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98	3	COL9A1, COL9A2, COL9A3
Axon guidance	R-HSA-422475	3.93	3	COL9A1, COL9A2, COL9A3
Developmental Biology	R-HSA-1266738	3.48	3	COL9A1, COL9A2, COL9A3

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Integrin cell surface interactions (R-HSA-216083)	-	6.57	0.0	COL9A1, COL9A2, COL9A3, COMP
Degradation of the extracellular matrix (R-HSA-1474228)	-	6.11	0.009	COL9A1, COL9A2, COL9A3
Collagen degradation (R-HSA-1442490)	-	7.03	0.001	COL9A1, COL9A2, COL9A3
ECM proteoglycans (R-HSA-3000178)	-	6.75	0.0	COL9A1, COL9A3, MATN3, COL9A2, COMP
NCAM signaling for neurite out-growth (R-HSA-375165)	-	4.9	0.02	COL9A1, COL9A2, COL9A3
NCAM1 interactions (R-HSA-419037)	-	7.59	0.0	COL9A1, COL9A2, COL9A3
Extracellular matrix organization (R-HSA-1474244)	-	4.91	0.0	COL9A1, COL9A3, MATN3, COL9A2, COMP
Collagen formation (R-HSA-1474290)	-	6.56	0.001	COL9A1, COL9A2, COL9A3
Signaling by PDGF (R-HSA-186797)	-	4.53	0.042	COL9A1, COL9A2, COL9A3
Collagen biosynthesis and modifying enzymes (R-HSA-1650814)	-	6.98	0.0	COL9A1, COL9A2, COL9A3

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
extracellular matrix structural constituent (GO:0005201)	5.37	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
structural molecule activity (GO:0005198)	3.1	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
cation binding (GO:0043169)	1.4	3	MATN3, COL9A1, COMP
metal ion binding (GO:0046872)	1.41	3	MATN3, COL9A1, COMP
binding (GO:0005488)	0.18	3	MATN3, COL9A1, COMP
extracellular matrix structural constituent conferring tensile strength (GO:0030020)	7.95	3	COL9A1, COL9A2, COL9A3
ion binding (GO:0043167)	1.36	3	MATN3, COL9A1, COMP
calcium ion binding (GO:0005509)	3.17	2	MATN3, COMP
protein binding (GO:0005515)	0.46	2	MATN3, COMP

NET-GE enrichment

Term	New enriched term	IC	Genes
extracellular matrix structural constituent (GO:0005201)	-	5.37	COL9A1, COL9A3, MATN3, COL9A2, COMP
extracellular matrix structural constituent conferring tensile strength (GO:0030020)	-	7.95	COL9A1, COL9A2, COL9A3
structural molecule activity (GO:0005198)	-	3.1	COL9A1, COL9A3, MATN3, COL9A2, COMP

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	6	COMP, SLC26A2, COL9A3, COL9A2, COL9A1, MATN3
single-organism cellular process (GO:0044763)	0.65	6	COMP, SLC26A2, COL9A3, COL9A2, COL9A1, MATN3
single-organism process (GO:0044699)	0.48	6	COMP, SLC26A2, COL9A3, COL9A2, COL9A1, MATN3
developmental process (GO:0032502)	1.36	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
extracellular matrix organization (GO:0030198)	4.01	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
cellular component organization (GO:0016043)	1.24	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
cellular component organization or biogenesis (GO:0071840)	1.22	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
extracellular structure organization (GO:0043062)	4.0	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
anatomical structure development (GO:0048856)	1.58	4	COL9A3, MATN3, COL9A2, COMP
single-organism developmental process (GO:0044767)	1.49	3	COL9A3, COL9A1, COMP
skeletal system development (GO:0001501)	4.49	3	MATN3, COL9A2, COMP
system development (GO:0048731)	2.92	3	MATN3, COL9A2, COMP
anatomical structure morphogenesis (GO:0009653)	2.53	2	COL9A1, COMP
organ morphogenesis (GO:0009887)	3.55	2	COL9A1, COMP
animal organ development (GO:0048513)	2.53	2	COL9A3, COMP
biological regulation (GO:0065007)	0.39	2	SLC26A2, COMP

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cartilage development (GO:0051216)	NEW	5.31	0.035	COL9A1, COMP
cartilage development involved in endochondral bone morphogenesis (GO:0060351)	NEW	7.24	0.007	COL9A1, COMP
multicellular organismal catabolic process (GO:0044243)	NEW	5.47	0.003	COL9A1, COL9A2, COL9A3
skeletal system development (GO:0001501)	-	4.49	0.002	MATN3, COL9A2, COMP
collagen metabolic process (GO:0032963)	NEW	5.42	0.0	COL9A1, COL9A2, COL9A3
collagen catabolic process (GO:0030574)	NEW	5.57	0.002	COL9A1, COL9A2, COL9A3
multicellular organismal metabolic process (GO:0044236)	NEW	5.2	0.006	COL9A1, COL9A2, COL9A3
growth plate cartilage development (GO:0003417)	NEW	7.78	0.0	COL9A1, COMP
extracellular matrix organization (GO:0030198)	-	4.01	0.0	COL9A1, COL9A3, MATN3, COL9A2, COMP
cellular component disassembly (GO:0022411)	NEW	3.52	0.019	COL9A1, COL9A2, COL9A3
multicellular organismal macromolecule metabolic process (GO:0044259)	NEW	5.36	0.0	COL9A1, COL9A2, COL9A3
extracellular structure organization (GO:0043062)	-	4.0	0.0	COL9A1, COL9A3, MATN3, COL9A2, COMP
axon guidance (GO:0007411)	NEW	4.44	0.023	COL9A1, COL9A2, COL9A3
neuron projection guidance (GO:0097485)	NEW	4.43	0.023	COL9A1, COL9A2, COL9A3
extracellular matrix disassembly (GO:0022617)	NEW	5.38	0.016	COL9A1, COL9A2, COL9A3

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
extracellular region part (GO:0044421)	1.57	6	COMP, SLC26A2, COL9A3, COL9A2, COL9A1, MATN3
extracellular region (GO:0005576)	2.18	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
proteinaceous extracellular matrix (GO:0005578)	4.01	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
extracellular matrix (GO:0031012)	3.81	5	COL9A1, COL9A3, MATN3, COL9A2, COMP
cell part (GO:0044464)	0.11	4	COL9A1, COL9A2, COL9A3, SLC26A2
protein complex (GO:0043234)	1.51	3	COL9A1, COL9A2, COL9A3
macromolecular complex (GO:0032991)	1.35	3	COL9A1, COL9A2, COL9A3
collagen trimer (GO:0005581)	5.21	3	COL9A1, COL9A2, COL9A3
organelle lumen (GO:0043233)	3.05	3	COL9A1, COL9A2, COL9A3
membrane-enclosed lumen (GO:0031974)	3.05	3	COL9A1, COL9A2, COL9A3
intracellular organelle part (GO:0044446)	0.81	3	COL9A1, COL9A2, COL9A3
endoplasmic reticulum part (GO:0044432)	2.73	3	COL9A1, COL9A2, COL9A3
cytoplasmic part (GO:0044444)	0.82	3	COL9A1, COL9A2, COL9A3
intracellular organelle lumen (GO:0070013)	3.05	3	COL9A1, COL9A2, COL9A3
endoplasmic reticulum lumen (GO:0005788)	4.5	3	COL9A1, COL9A2, COL9A3
FACIT collagen trimer (GO:0005593)	8.01	3	COL9A1, COL9A2, COL9A3
intracellular part (GO:0044424)	0.28	3	COL9A1, COL9A2, COL9A3
organelle part (GO:0044422)	0.79	3	COL9A1, COL9A2, COL9A3
collagen type IX trimer (GO:0005594)	8.7	3	COL9A1, COL9A2, COL9A3
extracellular organelle (GO:0043230)	1.89	2	SLC26A2, COMP
vesicle (GO:0031982)	1.64	2	SLC26A2, COMP
membrane-bounded vesicle (GO:0031988)	1.71	2	SLC26A2, COMP
extracellular vesicle (GO:1903561)	1.89	2	SLC26A2, COMP
membrane-bounded organelle (GO:0043227)	0.47	2	SLC26A2, COMP
organelle (GO:0043226)	0.4	2	SLC26A2, COMP
extracellular exosome (GO:0070062)	1.89	2	SLC26A2, COMP

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
collagen trimer (GO:0005581)	-	5.21	0.0	COL9A1, COL9A2, COL9A3
organelle lumen (GO:0043233)	-	3.05	0.035	COL9A1, COL9A2, COL9A3, COMP
endoplasmic reticulum lumen (GO:0005788)	-	4.5	0.001	COL9A1, COL9A2, COL9A3, COMP
extracellular region part (GO:0044421)	-	1.57	0.002	COMP, SLC26A2, COL9A3, COL9A2, COL9A1, MATN3
intracellular organelle lumen (GO:0070013)	-	3.05	0.017	COL9A1, COL9A2, COL9A3, COMP
extracellular region (GO:0005576)	-	2.18	0.001	COL9A1, COL9A3, MATN3, COL9A2, COMP
membrane-enclosed lumen (GO:0031974)	-	3.05	0.047	COL9A1, COL9A2, COL9A3, COMP
FACIT collagen trimer (GO:0005593)	-	8.01	0.0	COL9A1, COL9A2, COL9A3
extracellular matrix (GO:0031012)	-	3.81	0.0	COL9A1, COL9A3, MATN3, COL9A2, COMP
proteinaceous extracellular matrix (GO:0005578)	-	4.01	0.0	COL9A1, COL9A3, MATN3, COL9A2, COMP
collagen type IX trimer (GO:0005594)	-	8.7	0.0	COL9A1, COL9A2, COL9A3