Disease table of BETHLEM MYOPATHY OMIM ID: PS158810

Gene-disease associations table

GeneAssociated with BETHLEM MYOPATHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL6A1ClinVar, OMIM, HUMSAVARHGNC link21q22.32PS158810, PS254090
COL6A3ClinVar, OMIM, HUMSAVARHGNC link2q37.33PS158810, PS128100, PS254090
COL6A2ClinVar, OMIM, HUMSAVARHGNC link21q22.33PS158810, 255600, PS254090
COL12A1ClinVar, OMIM, HUMSAVARHGNC link6q14.12PS158810, PS254090

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 9292COL6A2, COL6A1
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
21q22.32COL6A2, COL6A1
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
21q222COL6A2, COL6A1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
21q22COL6A2, COL6A1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
21q2COL6A2, COL6A1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
212COL6A2, COL6A1
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
COL6A1COL6A2No3COL9A1, C1QTNF9, PTPRK

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
COL6A1COL6A3Yesbinding55COL15A1, 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
COL6A1COL6A2Yesbinding55COL15A1, 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
COL6A1COL12A1Yesreaction, binding33COL15A1, 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
COL6A3COL6A2Yesbinding55COL15A1, 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
COL6A3COL12A1Yesreaction33COL15A1, 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
COL6A2COL12A1Yesreaction33COL15A1, 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

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

KEGG termKEGG term IDICNumber of genes with the same termGenes
Protein digestion and absorptionhsa049746.24COL6A1, COL6A3, COL6A2, COL12A1
ECM-receptor interactionhsa045126.093COL6A1, COL6A3, COL6A2
Focal adhesionhsa045104.923COL6A1, COL6A3, COL6A2
PI3K-Akt signaling pathwayhsa041514.213COL6A1, COL6A3, COL6A2

NET-GE enrichment

Term New enriched termICP valueGenes
Protein digestion and absorption (hsa04974) -6.20.0COL6A1, COL6A3, COL6A2, COL12A1
Digestive systemNEW4.120.002COL6A1, COL6A3, COL6A2, COL12A1
ECM-receptor interaction (hsa04512) -6.090.0COL6A1, COL6A3, COL6A2
Focal adhesion (hsa04510) -4.920.002COL6A1, COL6A3, COL6A2
Cellular communityNEW3.570.027COL6A1, COL6A3, COL6A2
PI3K-Akt signaling pathway (hsa04151) -4.210.007COL6A1, COL6A3, COL6A2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Collagen biosynthesis and modifying enzymesR-HSA-16508146.984COL6A1, COL6A3, COL6A2, COL12A1
Extracellular matrix organizationR-HSA-14742444.914COL6A1, COL6A3, COL6A2, COL12A1
Collagen formationR-HSA-14742906.564COL6A1, COL6A3, COL6A2, COL12A1
Degradation of the extracellular matrixR-HSA-14742286.114COL6A1, COL6A3, COL6A2, COL12A1
Collagen degradationR-HSA-14424907.034COL6A1, COL6A3, COL6A2, COL12A1
Integrin cell surface interactionsR-HSA-2160836.573COL6A1, COL6A3, COL6A2
ECM proteoglycansR-HSA-30001786.753COL6A1, COL6A3, COL6A2
NCAM signaling for neurite out-growthR-HSA-3751654.93COL6A1, COL6A3, COL6A2
NCAM1 interactionsR-HSA-4190377.593COL6A1, COL6A3, COL6A2
Signal TransductionR-HSA-1625821.783COL6A1, COL6A3, COL6A2
Signaling by PDGFR-HSA-1867974.533COL6A1, COL6A3, COL6A2
Axon guidanceR-HSA-4224753.933COL6A1, COL6A3, COL6A2
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.23COL6A1, COL6A3, COL6A2
Developmental BiologyR-HSA-12667383.483COL6A1, COL6A3, COL6A2

NET-GE enrichment

Term New enriched termICP valueGenes
Integrin cell surface interactions (R-HSA-216083) -6.570.0COL6A1, COL6A3, COL6A2
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.0COL6A1, COL6A3, COL6A2, COL12A1
Collagen degradation (R-HSA-1442490) -7.030.0COL6A1, COL6A3, COL6A2, COL12A1
ECM proteoglycans (R-HSA-3000178) -6.750.0COL6A1, COL6A3, COL6A2
NCAM signaling for neurite out-growth (R-HSA-375165) -4.90.002COL6A1, COL6A3, COL6A2
NCAM1 interactions (R-HSA-419037) -7.590.0COL6A1, COL6A3, COL6A2
Extracellular matrix organization (R-HSA-1474244) -4.910.0COL6A1, COL6A3, COL6A2, COL12A1
Collagen formation (R-HSA-1474290) -6.560.0COL6A1, COL6A3, COL6A2, COL12A1
Signaling by PDGF (R-HSA-186797) -4.530.037COL6A1, COL6A3, COL6A2
Axon guidance (R-HSA-422475) -3.930.016COL6A1, COL6A3, COL6A2
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.0COL6A1, COL6A3, COL6A2
Collagen biosynthesis and modifying enzymes (R-HSA-1650814) -6.980.0COL6A1, COL6A3, COL6A2, COL12A1
Developmental Biology (R-HSA-1266738) -3.480.04COL6A1, COL6A3, COL6A2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182COL6A1, COL6A2
protein binding (GO:0005515) 0.462COL6A1, COL6A2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
metabolic process (GO:0008152) 0.584COL6A1, COL6A3, COL6A2, COL12A1
collagen metabolic process (GO:0032963) 5.424COL6A1, COL6A3, COL6A2, COL12A1
macromolecule metabolic process (GO:0043170) 0.834COL6A1, COL6A3, COL6A2, COL12A1
single-organism process (GO:0044699) 0.484COL6A1, COL6A3, COL6A2, COL12A1
single-organism catabolic process (GO:0044712) 3.214COL6A1, COL6A3, COL6A2, COL12A1
single-organism metabolic process (GO:0044710) 1.634COL6A1, COL6A3, COL6A2, COL12A1
multicellular organism catabolic process (GO:0044243) 5.474COL6A1, COL6A3, COL6A2, COL12A1
cellular component organization (GO:0016043) 1.244COL6A1, COL6A3, COL6A2, COL12A1
organic substance metabolic process (GO:0071704) 0.634COL6A1, COL6A3, COL6A2, COL12A1
cellular component organization or biogenesis (GO:0071840) 1.224COL6A1, COL6A3, COL6A2, COL12A1
extracellular structure organization (GO:0043062) 4.04COL6A1, COL6A3, COL6A2, COL12A1
biological adhesion (GO:0022610) 2.814COL6A1, COL6A3, COL6A2, COL12A1
multicellular organismal process (GO:0032501) 1.454COL6A1, COL6A3, COL6A2, COL12A1
cellular process (GO:0009987) 0.264COL6A1, COL6A3, COL6A2, COL12A1
single-organism cellular process (GO:0044763) 0.654COL6A1, COL6A3, COL6A2, COL12A1
multicellular organismal macromolecule metabolic process (GO:0044259) 5.364COL6A1, COL6A3, COL6A2, COL12A1
cell adhesion (GO:0007155) 2.824COL6A1, COL6A3, COL6A2, COL12A1
catabolic process (GO:0009056) 2.384COL6A1, COL6A3, COL6A2, COL12A1
single-multicellular organism process (GO:0044707) 1.784COL6A1, COL6A3, COL6A2, COL12A1
collagen catabolic process (GO:0030574) 5.574COL6A1, COL6A3, COL6A2, COL12A1
multicellular organism metabolic process (GO:0044236) 5.24COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix organization (GO:0030198) 4.014COL6A1, COL6A3, COL6A2, COL12A1
macromolecular complex subunit organization (GO:0043933) 2.143COL6A1, COL6A2, COL12A1
protein complex subunit organization (GO:0071822) 2.63COL6A1, COL6A2, COL12A1
response to oxygen-containing compound (GO:1901700) 2.572COL6A1, COL6A2
protein oligomerization (GO:0051259) 3.712COL6A1, COL6A2
cellular component assembly (GO:0022607) 2.142COL6A1, COL6A2
protein trimerization (GO:0070206) 6.042COL6A1, COL6A2
cellular developmental process (GO:0048869) 1.822COL6A1, COL12A1
response to stimulus (GO:0050896) 1.222COL6A1, COL6A2
protein heterotrimerization (GO:0070208) 7.092COL6A1, COL6A2
protein heterooligomerization (GO:0051291) 5.222COL6A1, COL6A2
macromolecular complex assembly (GO:0065003) 2.552COL6A1, COL6A2
developmental process (GO:0032502) 1.362COL6A3, COL12A1
cell differentiation (GO:0030154) 2.142COL6A1, COL12A1
response to chemical (GO:0042221) 1.982COL6A1, COL6A2
endodermal cell differentiation (GO:0035987) 6.42COL6A1, COL12A1
response to organic substance (GO:0010033) 2.22COL6A1, COL6A2
protein complex assembly (GO:0006461) 2.782COL6A1, COL6A2
anatomical structure development (GO:0048856) 1.582COL6A3, COL12A1

NET-GE enrichment

Term New enriched termICP valueGenes
collagen metabolic process (GO:0032963) -5.420.0COL6A1, COL6A3, COL6A2, COL12A1
axon guidance (GO:0007411) NEW4.440.003COL6A1, COL6A3, COL6A2
multicellular organismal metabolic process (GO:0044236) -5.20.0COL6A1, COL6A3, COL6A2, COL12A1
single-organism catabolic process (GO:0044712) -3.210.002COL6A1, COL6A3, COL6A2, COL12A1
multicellular organismal catabolic process (GO:0044243) -5.470.0COL6A1, COL6A3, COL6A2, COL12A1
catabolic process (GO:0009056) -2.380.017COL6A1, COL6A3, COL6A2, COL12A1
extracellular structure organization (GO:0043062) -4.00.001COL6A1, COL6A3, COL6A2, COL12A1
biological adhesion (GO:0022610) -2.810.0COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix disassembly (GO:0022617) NEW5.380.0COL6A1, COL6A3, COL6A2, COL12A1
protein trimerization (GO:0070206) -6.040.011COL6A1, COL6A2
protein heterotrimerization (GO:0070208) -7.090.0COL6A1, COL6A2
protein heterooligomerization (GO:0051291) -5.220.01COL6A1, COL6A2
cellular component disassembly (GO:0022411) NEW3.520.0COL6A1, COL6A3, COL6A2, COL12A1
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.0COL6A1, COL6A3, COL6A2, COL12A1
cell adhesion (GO:0007155) -2.820.024COL6A1, COL6A3, COL6A2, COL12A1
neuron projection guidance (GO:0097485) NEW4.430.003COL6A1, COL6A3, COL6A2
endodermal cell differentiation (GO:0035987) -6.40.004COL6A1, COL12A1
response to hexose (GO:0009746) NEW4.820.019COL6A3, COL6A2
response to carbohydrate (GO:0009743) NEW4.620.029COL6A3, COL6A2
response to monosaccharide (GO:0034284) NEW4.770.02COL6A3, COL6A2
collagen catabolic process (GO:0030574) -5.570.0COL6A1, COL6A3, COL6A2, COL12A1
response to glucose (GO:0009749) NEW4.860.017COL6A3, COL6A2
extracellular matrix organization (GO:0030198) -4.010.001COL6A1, COL6A3, COL6A2, COL12A1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
endoplasmic reticulum lumen (GO:0005788) 4.54COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix (GO:0031012) 3.814COL6A1, COL6A3, COL6A2, COL12A1
membrane-bounded organelle (GO:0043227) 0.474COL6A1, COL6A3, COL6A2, COL12A1
organelle (GO:0043226) 0.44COL6A1, COL6A3, COL6A2, COL12A1
vesicle (GO:0031982) 1.644COL6A1, COL6A3, COL6A2, COL12A1
membrane-bounded vesicle (GO:0031988) 1.714COL6A1, COL6A3, COL6A2, COL12A1
endoplasmic reticulum part (GO:0044432) 2.734COL6A1, COL6A3, COL6A2, COL12A1
membrane-enclosed lumen (GO:0031974) 3.054COL6A1, COL6A3, COL6A2, COL12A1
macromolecular complex (GO:0032991) 1.354COL6A1, COL6A3, COL6A2, COL12A1
extracellular vesicle (GO:1903561) 1.894COL6A1, COL6A3, COL6A2, COL12A1
extracellular exosome (GO:0070062) 1.894COL6A1, COL6A3, COL6A2, COL12A1
protein complex (GO:0043234) 1.514COL6A1, COL6A3, COL6A2, COL12A1
extracellular organelle (GO:0043230) 1.894COL6A1, COL6A3, COL6A2, COL12A1
organelle lumen (GO:0043233) 3.054COL6A1, COL6A3, COL6A2, COL12A1
cell part (GO:0044464) 0.114COL6A1, COL6A3, COL6A2, COL12A1
extracellular region part (GO:0044421) 1.574COL6A1, COL6A3, COL6A2, COL12A1
intracellular organelle part (GO:0044446) 0.814COL6A1, COL6A3, COL6A2, COL12A1
intracellular organelle lumen (GO:0070013) 3.054COL6A1, COL6A3, COL6A2, COL12A1
cytoplasmic part (GO:0044444) 0.824COL6A1, COL6A3, COL6A2, COL12A1
extracellular region (GO:0005576) 2.184COL6A1, COL6A3, COL6A2, COL12A1
collagen trimer (GO:0005581) 5.214COL6A1, COL6A3, COL6A2, COL12A1
intracellular part (GO:0044424) 0.284COL6A1, COL6A3, COL6A2, COL12A1
proteinaceous extracellular matrix (GO:0005578) 4.014COL6A1, COL6A3, COL6A2, COL12A1
organelle part (GO:0044422) 0.794COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix component (GO:0044420) 4.973COL6A1, COL6A3, COL12A1
membrane (GO:0016020) 0.683COL6A1, COL6A3, COL6A2
sarcolemma (GO:0042383) 5.23COL6A1, COL6A3, COL6A2
extracellular space (GO:0005615) 2.633COL6A3, COL6A2, COL12A1
plasma membrane (GO:0005886) 1.393COL6A1, COL6A3, COL6A2
collagen type VI trimer (GO:0005589) 8.72COL6A1, COL6A3

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular organelle (GO:0043230) -1.890.016COL6A1, COL6A3, COL6A2, COL12A1
vesicle (GO:0031982) -1.640.032COL6A1, COL6A3, COL6A2, COL12A1
organelle lumen (GO:0043233) -3.050.003COL6A1, COL6A3, COL6A2, COL12A1
extracellular vesicular exosome (GO:0070062) -1.890.016COL6A1, COL6A3, COL6A2, COL12A1
endoplasmic reticulum part (GO:0044432) -2.730.013COL6A1, COL6A3, COL6A2, COL12A1
collagen type VI trimer (GO:0005589) -8.70.0COL6A1, COL6A3
endoplasmic reticulum lumen (GO:0005788) -4.50.0COL6A1, COL6A3, COL6A2, COL12A1
extracellular matrix (GO:0031012) -3.810.0COL6A1, COL6A3, COL6A2, COL12A1
intracellular organelle lumen (GO:0070013) -3.050.0COL6A1, COL6A3, COL6A2, COL12A1
extracellular region (GO:0005576) -2.180.044COL6A1, COL6A3, COL6A2, COL12A1
collagen trimer (GO:0005581) -5.210.0COL6A1, COL6A3, COL6A2, COL12A1
membrane-enclosed lumen (GO:0031974) -3.050.0COL6A1, COL6A3, COL6A2, COL12A1
sarcolemma (GO:0042383) -5.20.0COL6A1, COL6A3, COL6A2
membrane-bounded vesicle (GO:0031988) -1.710.028COL6A1, COL6A3, COL6A2, COL12A1
extracellular membrane-bounded organelle (GO:0065010) NEW8.70.016COL6A1, COL6A3, COL6A2, COL12A1
proteinaceous extracellular matrix (GO:0005578) -4.010.0COL6A1, COL6A3, COL6A2
extracellular space (GO:0005615) -2.630.033COL6A3, COL6A2, COL12A1