Disease table of ULLRICH CONGENITAL MUSCULAR DYSTROPHY OMIM ID: PS254090

Gene-disease associations table

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Gene	Associated with ULLRICH CONGENITAL MUSCULAR DYSTROPHY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
COL12A1	ClinVar, OMIM	HGNC link	6q14.1	2	PS158810, PS254090
COL6A1	ClinVar, OMIM, HUMSAVAR	HGNC link	21q22.3	2	PS158810, PS254090
COL6A2	ClinVar, OMIM, HUMSAVAR	HGNC link	21q22.3	3	PS158810, 255600, PS254090
COL6A3	ClinVar, OMIM, HUMSAVAR	HGNC link	2q37.3	3	PS158810, PS128100, PS254090

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

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Common tandem group	Number of genes in this tandem group associated to this disease	Genes in this tandem group associated to this disease
Group 929	2	COL6A2, COL6A1

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Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
21q22.3	2	COL6A2, COL6A1

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
21q22	2	COL6A2, COL6A1

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
21q2	2	COL6A2, COL6A1

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
21q	2	COL6A2, COL6A1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
21	2	COL6A2, COL6A1

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
COL6A1	COL6A2	No	3	COL9A1, C1QTNF9, PTPRK

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
COL6A1	COL6A3	Yes	binding	55	COL15A1, COL8A1, COL14A1, ITGA3, COL6A2, ITGA2B, COL11A1, COL4A6, ITGAV, COL9A2, ITGA11, ITGA9, COL25A1, ITGA6, ITGA5, COL21A1, COL5A3, COL4A2, PTK2, COL19A1, COL20A1, CD44, COL23A1, ITGB5, COL12A1, ITGA4, COL24A1, COL7A1, COL13A1, COL28A1, ITGB6, ITGA7, COL2A1, COL27A1, COL4A1, SDC4, COL16A1, ITGB7, ITGB4, ITGA2, COL22A1, ITGB8, ITGB1, ITGA8, COL9A1, COL9A3, COL17A1, COL4A5, COL10A1, ITGA1, SDC1, COL8A2, COL18A1, COL5A1, COL5A2
COL6A1	COL6A2	Yes	binding	55	COL15A1, COL8A1, COL14A1, ITGA3, ITGA2B, COL11A1, COL4A6, ITGAV, COL9A2, ITGA11, ITGA9, COL25A1, ITGA6, ITGA5, COL21A1, COL5A3, COL4A2, PTK2, COL19A1, COL20A1, CD44, COL23A1, ITGB5, COL12A1, ITGA4, COL24A1, COL7A1, COL13A1, COL28A1, ITGB6, ITGA7, COL2A1, COL27A1, COL4A1, SDC4, COL16A1, ITGB7, ITGB4, ITGA2, COL22A1, ITGB8, ITGB1, ITGA8, COL9A1, COL9A3, COL17A1, COL4A5, COL10A1, ITGA1, SDC1, COL8A2, COL6A3, COL18A1, COL5A1, COL5A2
COL6A1	COL12A1	Yes	reaction, binding	33	COL15A1, COL8A1, COL14A1, COL6A2, COL11A1, COL4A6, COL9A2, COL23A1, COL2A1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL18A1, COL24A1, COL7A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A1, COL22A1, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2
COL6A3	COL6A2	Yes	binding	55	COL15A1, COL8A1, COL14A1, ITGA3, COL6A1, ITGA2B, COL11A1, COL4A6, ITGAV, COL9A2, ITGA11, ITGA9, COL25A1, ITGA6, ITGA5, COL21A1, COL5A3, COL4A2, PTK2, COL19A1, COL20A1, CD44, COL23A1, ITGB5, COL12A1, ITGA4, COL24A1, COL7A1, COL13A1, COL28A1, ITGB6, ITGA7, COL2A1, COL27A1, COL4A1, SDC4, COL16A1, ITGB7, ITGB4, ITGA2, COL22A1, ITGB8, ITGB1, ITGA8, COL9A1, COL9A3, COL17A1, COL4A5, COL10A1, ITGA1, SDC1, COL8A2, COL18A1, COL5A1, COL5A2
COL6A3	COL12A1	Yes	reaction	33	COL15A1, COL8A1, COL14A1, COL7A1, COL11A1, COL4A6, COL9A2, COL23A1, COL2A1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL18A1, COL24A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A1, COL22A1, COL6A2, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL5A1, COL5A2
COL6A2	COL12A1	Yes	reaction	33	COL15A1, COL8A1, COL14A1, COL7A1, COL11A1, COL4A6, COL9A2, COL23A1, COL2A1, COL21A1, COL5A3, COL4A2, COL19A1, COL20A1, COL18A1, COL24A1, COL6A1, COL13A1, COL28A1, COL25A1, COL27A1, COL4A1, COL16A1, COL9A1, COL22A1, COL9A3, COL17A1, COL4A5, COL10A1, COL8A2, COL6A3, COL5A1, COL5A2

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

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Protein digestion and absorption	hsa04974	6.2	4	COL6A1, COL6A3, COL6A2, COL12A1
ECM-receptor interaction	hsa04512	6.09	3	COL6A1, COL6A3, COL6A2
Focal adhesion	hsa04510	4.92	3	COL6A1, COL6A3, COL6A2
PI3K-Akt signaling pathway	hsa04151	4.21	3	COL6A1, COL6A3, COL6A2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Protein digestion and absorption (hsa04974)	-	6.2	0.0	COL6A1, COL6A3, COL6A2, COL12A1
ECM-receptor interaction (hsa04512)	-	6.09	0.0	COL6A1, COL6A3, COL6A2
Focal adhesion (hsa04510)	-	4.92	0.002	COL6A1, COL6A3, COL6A2
PI3K-Akt signaling pathway (hsa04151)	-	4.21	0.007	COL6A1, COL6A3, COL6A2
Digestive system	NEW	4.12	0.002	COL6A1, COL6A3, COL6A2, COL12A1
Cellular community	NEW	3.57	0.027	COL6A1, COL6A3, COL6A2

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REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
NCAM1 interactions	R-HSA-419037	7.59	3	COL6A1, COL6A3, COL6A2
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2	3	COL6A1, COL6A3, COL6A2
Collagen degradation	R-HSA-1442490	7.03	4	COL6A1, COL6A3, COL6A2, COL12A1
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98	4	COL6A1, COL6A3, COL6A2, COL12A1
ECM proteoglycans	R-HSA-3000178	6.75	3	COL6A1, COL6A3, COL6A2
Integrin cell surface interactions	R-HSA-216083	6.57	3	COL6A1, COL6A3, COL6A2
Collagen formation	R-HSA-1474290	6.56	4	COL6A1, COL6A3, COL6A2, COL12A1
Degradation of the extracellular matrix	R-HSA-1474228	6.11	4	COL6A1, COL6A3, COL6A2, COL12A1
Extracellular matrix organization	R-HSA-1474244	4.91	4	COL6A1, COL6A3, COL6A2, COL12A1
NCAM signaling for neurite out-growth	R-HSA-375165	4.9	3	COL6A1, COL6A3, COL6A2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
NCAM1 interactions (R-HSA-419037)	-	7.59	0.0	COL6A1, COL6A3, COL6A2
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)	-	7.2	0.0	COL6A1, COL6A3, COL6A2
Collagen degradation (R-HSA-1442490)	-	7.03	0.0	COL6A1, COL6A3, COL6A2, COL12A1
Collagen biosynthesis and modifying enzymes (R-HSA-1650814)	-	6.98	0.0	COL6A1, COL6A3, COL6A2, COL12A1
ECM proteoglycans (R-HSA-3000178)	-	6.75	0.0	COL6A1, COL6A3, COL6A2
Integrin cell surface interactions (R-HSA-216083)	-	6.57	0.0	COL6A1, COL6A3, COL6A2
Collagen formation (R-HSA-1474290)	-	6.56	0.0	COL6A1, COL6A3, COL6A2, COL12A1
Degradation of the extracellular matrix (R-HSA-1474228)	-	6.11	0.0	COL6A1, COL6A3, COL6A2, COL12A1
Extracellular matrix organization (R-HSA-1474244)	-	4.91	0.0	COL6A1, COL6A3, COL6A2, COL12A1
NCAM signaling for neurite out-growth (R-HSA-375165)	-	4.9	0.002	COL6A1, COL6A3, COL6A2

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GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
protein binding (GO:0005515)	0.46	2	COL6A1, COL6A2
binding (GO:0005488)	0.18	2	COL6A1, COL6A2

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
protein heterotrimerization (GO:0070208)	7.09	2	COL6A1, COL6A2
endodermal cell differentiation (GO:0035987)	6.4	2	COL6A1, COL12A1
protein trimerization (GO:0070206)	6.04	2	COL6A1, COL6A2
collagen catabolic process (GO:0030574)	5.57	4	COL6A1, COL6A3, COL6A2, COL12A1
multicellular organism catabolic process (GO:0044243)	5.47	4	COL6A1, COL6A3, COL6A2, COL12A1
collagen metabolic process (GO:0032963)	5.42	4	COL6A1, COL6A3, COL6A2, COL12A1
multicellular organismal macromolecule metabolic process (GO:0044259)	5.36	4	COL6A1, COL6A3, COL6A2, COL12A1
protein heterooligomerization (GO:0051291)	5.22	2	COL6A1, COL6A2
multicellular organism metabolic process (GO:0044236)	5.2	4	COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix organization (GO:0030198)	4.01	4	COL6A1, COL6A3, COL6A2, COL12A1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
protein heterotrimerization (GO:0070208)	-	7.09	0.0	COL6A1, COL6A2
endodermal cell differentiation (GO:0035987)	-	6.4	0.004	COL6A1, COL12A1
protein trimerization (GO:0070206)	-	6.04	0.011	COL6A1, COL6A2
collagen catabolic process (GO:0030574)	-	5.57	0.0	COL6A1, COL6A3, COL6A2, COL12A1
multicellular organismal catabolic process (GO:0044243)	-	5.47	0.0	COL6A1, COL6A3, COL6A2, COL12A1
collagen metabolic process (GO:0032963)	-	5.42	0.0	COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix disassembly (GO:0022617)	NEW	5.38	0.0	COL6A1, COL6A3, COL6A2, COL12A1
multicellular organismal macromolecule metabolic process (GO:0044259)	-	5.36	0.0	COL6A1, COL6A3, COL6A2, COL12A1
protein heterooligomerization (GO:0051291)	-	5.22	0.01	COL6A1, COL6A2
multicellular organismal metabolic process (GO:0044236)	-	5.2	0.0	COL6A1, COL6A3, COL6A2, COL12A1

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
collagen type VI trimer (GO:0005589)	8.7	2	COL6A1, COL6A3
collagen trimer (GO:0005581)	5.21	4	COL6A1, COL6A3, COL6A2, COL12A1
sarcolemma (GO:0042383)	5.2	3	COL6A1, COL6A3, COL6A2
extracellular matrix component (GO:0044420)	4.97	3	COL6A1, COL6A3, COL12A1
endoplasmic reticulum lumen (GO:0005788)	4.5	4	COL6A1, COL6A3, COL6A2, COL12A1
proteinaceous extracellular matrix (GO:0005578)	4.01	4	COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix (GO:0031012)	3.81	4	COL6A1, COL6A3, COL6A2, COL12A1
membrane-enclosed lumen (GO:0031974)	3.05	4	COL6A1, COL6A3, COL6A2, COL12A1
organelle lumen (GO:0043233)	3.05	4	COL6A1, COL6A3, COL6A2, COL12A1
intracellular organelle lumen (GO:0070013)	3.05	4	COL6A1, COL6A3, COL6A2, COL12A1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
collagen type VI trimer (GO:0005589)	-	8.7	0.0	COL6A1, COL6A3
extracellular membrane-bounded organelle (GO:0065010)	NEW	8.7	0.016	COL6A1, COL6A3, COL6A2, COL12A1
collagen trimer (GO:0005581)	-	5.21	0.0	COL6A1, COL6A3, COL6A2, COL12A1
sarcolemma (GO:0042383)	-	5.2	0.0	COL6A1, COL6A3, COL6A2
endoplasmic reticulum lumen (GO:0005788)	-	4.5	0.0	COL6A1, COL6A3, COL6A2, COL12A1
proteinaceous extracellular matrix (GO:0005578)	-	4.01	0.0	COL6A1, COL6A3, COL6A2
extracellular matrix (GO:0031012)	-	3.81	0.0	COL6A1, COL6A3, COL6A2, COL12A1
organelle lumen (GO:0043233)	-	3.05	0.003	COL6A1, COL6A3, COL6A2, COL12A1
intracellular organelle lumen (GO:0070013)	-	3.05	0.0	COL6A1, COL6A3, COL6A2, COL12A1
membrane-enclosed lumen (GO:0031974)	-	3.05	0.0	COL6A1, COL6A3, COL6A2, COL12A1

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