Disease table of EHLERS-DANLOS SYNDROME, CLASSIC TYPE OMIM ID: 130000

Gene-disease associations table

GeneAssociated with EHLERS-DANLOS SYNDROME, CLASSIC TYPE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL5A2ClinVar, OMIM, HUMSAVARHGNC link2q32.22154700, 130000
COL5A1ClinVar, OMIM, HUMSAVARHGNC link9q34.33154700, 130000, PS109730
COL1A1ClinVar, OMIM, HUMSAVARHGNC link17q21.335166710, 130000, PS166200, 114000, 130060

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 geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL1A1YES12SP1, RELA, NFKB1, MYBL2, TFAP2A, SP3, MYB, NFIC, MKL1, CIITA, STAT6, ETS10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
COL5A2COL5A1No2TGM2, FBXW11
COL5A1COL1A1No5MAG, PDGFB, THBS1, PDGFA, SPARC

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
COL5A2COL5A1Yesbinding56COL15A1, 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, COL6A2, ITGB8, ITGB1, ITGA8, LUM, COL9A3, COL17A1, COL4A5, COL10A1, ITGA1, SDC1, COL8A2, COL9A1, COL18A1, COL6A3

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
Gene1Gene2Direct interactionMore information
COL5A1COL5A2yes, complexThey form trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Protein digestion and absorptionhsa049746.23COL5A2, COL1A1, COL5A1
ECM-receptor interactionhsa045126.093COL5A2, COL1A1, COL5A1
Focal adhesionhsa045104.923COL5A2, COL1A1, COL5A1
Amoebiasishsa051465.823COL5A2, COL1A1, COL5A1
Platelet activationhsa046115.663COL5A2, COL1A1, COL5A1
PI3K-Akt signaling pathwayhsa041514.213COL5A2, COL1A1, COL5A1

NET-GE enrichment

Term New enriched termICP valueGenes
Platelet activation (hsa04611) -5.660.0COL5A2, COL1A1, COL5A1
Immune systemNEW2.920.039COL5A2, COL1A1, COL5A1
ECM-receptor interaction (hsa04512) -6.090.0COL5A2, COL1A1, COL5A1
Infectious diseases: ParasiticNEW4.460.002COL5A2, COL1A1, COL5A1
Signaling molecules and interactionNEW3.090.027COL5A2, COL1A1, COL5A1
Digestive systemNEW4.120.003COL5A2, COL1A1, COL5A1
Amoebiasis (hsa05146) -5.820.0COL5A2, COL1A1, COL5A1
Focal adhesion (hsa04510) -4.920.004COL5A2, COL1A1, COL5A1
Cellular communityNEW3.570.01COL5A2, COL1A1, COL5A1
Protein digestion and absorption (hsa04974) -6.20.0COL5A2, COL1A1, COL5A1
PI3K-Akt signaling pathway (hsa04151) -4.210.003COL5A2, COL1A1, COL5A1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Integrin cell surface interactionsR-HSA-2160836.573COL5A2, COL1A1, COL5A1
Degradation of the extracellular matrixR-HSA-14742286.113COL5A2, COL1A1, COL5A1
Collagen degradationR-HSA-14424907.033COL5A2, COL1A1, COL5A1
ECM proteoglycansR-HSA-30001786.753COL5A2, COL1A1, COL5A1
Extracellular matrix organizationR-HSA-14742444.913COL5A2, COL1A1, COL5A1
Collagen formationR-HSA-14742906.563COL5A2, COL1A1, COL5A1
Syndecan interactionsR-HSA-30001708.233COL5A2, COL1A1, COL5A1
Non-integrin membrane-ECM interactionsR-HSA-30001717.13COL5A2, COL1A1, COL5A1
Collagen biosynthesis and modifying enzymesR-HSA-16508146.983COL5A2, COL1A1, COL5A1
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.23COL5A2, COL1A1, COL5A1
NCAM signaling for neurite out-growthR-HSA-3751654.92COL5A2, COL5A1
NCAM1 interactionsR-HSA-4190377.592COL5A2, COL5A1
Signal TransductionR-HSA-1625821.782COL5A2, COL5A1
Signaling by PDGFR-HSA-1867974.532COL5A2, COL5A1
Axon guidanceR-HSA-4224753.932COL5A2, COL5A1
Developmental BiologyR-HSA-12667383.482COL5A2, COL5A1

NET-GE enrichment

Term New enriched termICP valueGenes
Integrin cell surface interactions (R-HSA-216083) -6.570.0COL5A2, COL1A1, COL5A1
NCAM signaling for neurite out-growth (R-HSA-375165) -4.90.012COL5A2, COL1A1, COL5A1
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.001COL5A2, COL1A1, COL5A1
Collagen degradation (R-HSA-1442490) -7.030.0COL5A2, COL1A1, COL5A1
ECM proteoglycans (R-HSA-3000178) -6.750.0COL5A2, COL1A1, COL5A1
Signaling by PDGF (R-HSA-186797) -4.530.03COL5A2, COL1A1, COL5A1
NCAM1 interactions (R-HSA-419037) -7.590.01COL5A2, COL5A1
Extracellular matrix organization (R-HSA-1474244) -4.910.013COL5A2, COL1A1, COL5A1
Collagen formation (R-HSA-1474290) -6.560.0COL5A2, COL1A1, COL5A1
Syndecan interactions (R-HSA-3000170) -8.230.0COL5A2, COL1A1, COL5A1
Non-integrin membrane-ECM interactions (R-HSA-3000171) -7.10.0COL5A2, COL1A1, COL5A1
Collagen biosynthesis and modifying enzymes (R-HSA-1650814) -6.980.0COL5A2, COL1A1, COL5A1
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.0COL5A2, COL1A1, COL5A1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.43COL5A2, COL1A1, COL5A1
extracellular matrix structural constituent (GO:0005201) 5.373COL5A2, COL1A1, COL5A1
structural molecule activity (GO:0005198) 3.13COL5A2, COL1A1, COL5A1
ion binding (GO:0043167) 1.363COL5A2, COL1A1, COL5A1
binding (GO:0005488) 0.183COL5A2, COL1A1, COL5A1
protein binding (GO:0005515) 0.463COL5A2, COL1A1, COL5A1
metal ion binding (GO:0046872) 1.413COL5A2, COL1A1, COL5A1
platelet-derived growth factor binding (GO:0048407) 7.342COL5A1, COL1A1
growth factor binding (GO:0019838) 4.892COL5A1, COL1A1

NET-GE enrichment

Term New enriched termICP valueGenes
glycoprotein binding (GO:0001948) NEW5.110.043COL5A1, COL1A1
extracellular matrix structural constituent (GO:0005201) -5.370.0COL5A2, COL1A1, COL5A1
growth factor binding (GO:0019838) -4.890.003COL5A1, COL1A1
structural molecule activity (GO:0005198) -3.10.001COL5A2, COL1A1, COL5A1
proteoglycan binding (GO:0043394) NEW6.340.005COL5A1, COL1A1
platelet-derived growth factor binding (GO:0048407) -7.340.0COL5A1, COL1A1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
metabolic process (GO:0008152) 0.583COL5A2, COL1A1, COL5A1
regulation of anatomical structure morphogenesis (GO:0022603) 2.793COL5A2, COL1A1, COL5A1
macromolecular complex subunit organization (GO:0043933) 2.143COL5A2, COL1A1, COL5A1
collagen metabolic process (GO:0032963) 5.423COL5A2, COL1A1, COL5A1
anatomical structure morphogenesis (GO:0009653) 2.533COL5A2, COL1A1, COL5A1
regulation of biological process (GO:0050789) 0.453COL5A2, COL1A1, COL5A1
single-organism process (GO:0044699) 0.483COL5A2, COL1A1, COL5A1
single-organism catabolic process (GO:0044712) 3.213COL5A2, COL1A1, COL5A1
single-organism metabolic process (GO:0044710) 1.633COL5A2, COL1A1, COL5A1
multicellular organism catabolic process (GO:0044243) 5.473COL5A2, COL1A1, COL5A1
multicellular organismal macromolecule metabolic process (GO:0044259) 5.363COL5A2, COL1A1, COL5A1
protein complex subunit organization (GO:0071822) 2.63COL5A2, COL1A1, COL5A1
multicellular organism metabolic process (GO:0044236) 5.23COL5A2, COL1A1, COL5A1
cellular component organization (GO:0016043) 1.243COL5A2, COL1A1, COL5A1
organic substance metabolic process (GO:0071704) 0.633COL5A2, COL1A1, COL5A1
animal organ development (GO:0048513) 2.533COL5A2, COL1A1, COL5A1
biological regulation (GO:0065007) 0.393COL5A2, COL1A1, COL5A1
cellular component organization or biogenesis (GO:0071840) 1.223COL5A2, COL1A1, COL5A1
extracellular structure organization (GO:0043062) 4.03COL5A2, COL1A1, COL5A1
negative regulation of biological process (GO:0048519) 1.333COL5A2, COL1A1, COL5A1
skin development (GO:0043588) 5.843COL5A2, COL1A1, COL5A1
developmental process (GO:0032502) 1.363COL5A2, COL1A1, COL5A1
organ morphogenesis (GO:0009887) 3.553COL5A2, COL1A1, COL5A1
multicellular organismal process (GO:0032501) 1.453COL5A2, COL1A1, COL5A1
regulation of developmental process (GO:0050793) 2.13COL5A2, COL1A1, COL5A1
cellular process (GO:0009987) 0.263COL5A2, COL1A1, COL5A1
regulation of cellular process (GO:0050794) 0.53COL5A2, COL1A1, COL5A1
single-organism developmental process (GO:0044767) 1.493COL5A2, COL1A1, COL5A1
regulation of cell differentiation (GO:0045595) 2.423COL5A2, COL1A1, COL5A1
single-organism cellular process (GO:0044763) 0.653COL5A2, COL1A1, COL5A1
regulation of multicellular organismal process (GO:0051239) 1.873COL5A2, COL1A1, COL5A1
catabolic process (GO:0009056) 2.383COL5A2, COL1A1, COL5A1
single-multicellular organism process (GO:0044707) 1.783COL5A2, COL1A1, COL5A1
anatomical structure development (GO:0048856) 1.583COL5A2, COL1A1, COL5A1
collagen catabolic process (GO:0030574) 5.573COL5A2, COL1A1, COL5A1
macromolecule metabolic process (GO:0043170) 0.833COL5A2, COL1A1, COL5A1
collagen fibril organization (GO:0030199) 6.073COL5A2, COL1A1, COL5A1
extracellular matrix organization (GO:0030198) 4.013COL5A2, COL1A1, COL5A1
regulation of multicellular organismal development (GO:2000026) 2.313COL5A2, COL1A1, COL5A1
negative regulation of cellular process (GO:0048523) 1.413COL5A2, COL1A1, COL5A1
negative regulation of gastrulation (GO:2000542) 7.782COL5A2, COL5A1
response to stimulus (GO:0050896) 1.222COL5A2, COL1A1
regulation of cellular component organization (GO:0051128) 2.012COL5A1, COL1A1
collagen biosynthetic process (GO:0032964) 7.942COL5A1, COL1A1
skeletal system development (GO:0001501) 4.492COL5A2, COL1A1
ossification (GO:0001503) 4.862COL5A2, COL1A1
cellular response to chemical stimulus (GO:0070887) 2.572COL5A2, COL1A1
response to endogenous stimulus (GO:0009719) 2.792COL5A2, COL1A1
response to amino acid (GO:0043200) 5.122COL5A2, COL1A1
cellular response to stimulus (GO:0051716) 1.972COL5A2, COL1A1
single-organism biosynthetic process (GO:0044711) 2.82COL5A1, COL1A1
blood vessel development (GO:0001568) 4.952COL5A1, COL1A1
negative regulation of multicellular organismal process (GO:0051241) 2.842COL5A2, COL5A1
cellular response to organic substance (GO:0071310) 2.782COL5A2, COL1A1
cellular response to acid chemical (GO:0071229) 4.672COL5A2, COL1A1
negative regulation of endodermal cell differentiation (GO:1903225) 8.632COL5A2, COL5A1
regulation of endodermal cell differentiation (GO:1903224) 7.942COL5A2, COL5A1
biological adhesion (GO:0022610) 2.812COL5A1, COL1A1
sensory organ morphogenesis (GO:0090596) 5.722COL5A2, COL5A1
cellular response to endogenous stimulus (GO:0071495) 3.332COL5A2, COL1A1
response to oxygen-containing compound (GO:1901700) 2.572COL5A2, COL1A1
cellular response to amino acid stimulus (GO:0071230) 5.72COL5A2, COL1A1
organic substance biosynthetic process (GO:1901576) 1.342COL5A1, COL1A1
eye morphogenesis (GO:0048592) 5.92COL5A2, COL5A1
tissue development (GO:0009888) 3.272COL5A1, COL1A1
negative regulation of embryonic development (GO:0045992) 6.472COL5A2, COL5A1
biosynthetic process (GO:0009058) 1.322COL5A1, COL1A1
macromolecule biosynthetic process (GO:0009059) 1.612COL5A1, COL1A1
response to acid chemical (GO:0001101) 4.052COL5A2, COL1A1
regulation of embryonic development (GO:0045995) 4.982COL5A2, COL5A1
cell adhesion (GO:0007155) 2.822COL5A1, COL1A1
response to chemical (GO:0042221) 1.982COL5A2, COL1A1
movement of cell or subcellular component (GO:0006928) 2.612COL5A1, COL1A1
response to organic substance (GO:0010033) 2.22COL5A2, COL1A1
negative regulation of developmental process (GO:0051093) 3.172COL5A2, COL5A1
cellular response to oxygen-containing compound (GO:1901701) 3.222COL5A2, COL1A1
cell migration (GO:0016477) 3.122COL5A1, COL1A1
cell motility (GO:0048870) 3.022COL5A1, COL1A1
response to nitrogen compound (GO:1901698) 3.122COL5A2, COL1A1
cellular response to nitrogen compound (GO:1901699) 3.792COL5A2, COL1A1
cellular response to organonitrogen compound (GO:0071417) 3.872COL5A2, COL1A1
locomotion (GO:0040011) 2.912COL5A1, COL1A1
regulation of gastrulation (GO:0010470) 6.172COL5A2, COL5A1
system development (GO:0048731) 2.922COL5A2, COL1A1
response to organonitrogen compound (GO:0010243) 3.22COL5A2, COL1A1
negative regulation of cell differentiation (GO:0045596) 3.332COL5A2, COL5A1

NET-GE enrichment

Term New enriched termICP valueGenes
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.001COL5A2, COL1A1, COL5A1
regulation of anatomical structure morphogenesis (GO:0022603) -2.790.015COL5A2, COL1A1, COL5A1
cellular response to acid chemical (GO:0071229) -4.670.047COL5A2, COL1A1
collagen biosynthetic process (GO:0032964) -7.940.0COL5A1, COL1A1
skeletal system development (GO:0001501) -4.490.017COL5A2, COL1A1, COL5A1
collagen metabolic process (GO:0032963) -5.420.0COL5A2, COL1A1, COL5A1
multicellular organismal catabolic process (GO:0044243) -5.470.0COL5A2, COL1A1, COL5A1
blood vessel development (GO:0001568) -4.950.016COL5A1, COL1A1
extracellular structure organization (GO:0043062) -4.00.002COL5A2, COL1A1, COL5A1
negative regulation of endodermal cell differentiation (GO:1903225) -8.630.0COL5A2, COL5A1
regulation of endodermal cell differentiation (GO:1903224) -7.940.0COL5A2, COL5A1
extracellular matrix disassembly (GO:0022617) NEW5.380.0COL5A2, COL1A1, COL5A1
skin development (GO:0043588) -5.840.0COL5A2, COL1A1, COL5A1
organ morphogenesis (GO:0009887) -3.550.003COL5A2, COL1A1, COL5A1
cellular response to amino acid stimulus (GO:0071230) -5.70.004COL5A2, COL1A1
response to amino acid (GO:0043200) -5.120.016COL5A2, COL1A1
eye morphogenesis (GO:0048592) -5.90.004COL5A2, COL1A1, COL5A1
camera-type eye morphogenesis (GO:0048593) NEW6.780.005COL5A1, COL1A1
cellular component disassembly (GO:0022411) NEW3.520.002COL5A2, COL1A1, COL5A1
regulation of embryonic development (GO:0045995) -4.980.022COL5A2, COL5A1
collagen catabolic process (GO:0030574) -5.570.0COL5A2, COL1A1, COL5A1
multicellular organismal metabolic process (GO:0044236) -5.20.001COL5A2, COL1A1, COL5A1
collagen fibril organization (GO:0030199) -6.070.0COL5A2, COL1A1, COL5A1
extracellular matrix organization (GO:0030198) -4.010.002COL5A2, COL1A1, COL5A1
regulation of gastrulation (GO:0010470) -6.170.002COL5A2, COL5A1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.513COL5A2, COL1A1, COL5A1
macromolecular complex (GO:0032991) 1.353COL5A2, COL1A1, COL5A1
collagen trimer (GO:0005581) 5.213COL5A2, COL1A1, COL5A1
fibrillar collagen trimer (GO:0005583) 7.323COL5A2, COL1A1, COL5A1
extracellular region part (GO:0044421) 1.573COL5A2, COL1A1, COL5A1
organelle lumen (GO:0043233) 3.053COL5A2, COL1A1, COL5A1
cell part (GO:0044464) 0.113COL5A2, COL1A1, COL5A1
endoplasmic reticulum lumen (GO:0005788) 4.53COL5A2, COL1A1, COL5A1
extracellular matrix (GO:0031012) 3.813COL5A2, COL1A1, COL5A1
intracellular organelle part (GO:0044446) 0.813COL5A2, COL1A1, COL5A1
endoplasmic reticulum part (GO:0044432) 2.733COL5A2, COL1A1, COL5A1
cytoplasmic part (GO:0044444) 0.823COL5A2, COL1A1, COL5A1
intracellular organelle lumen (GO:0070013) 3.053COL5A2, COL1A1, COL5A1
membrane-enclosed lumen (GO:0031974) 3.053COL5A2, COL1A1, COL5A1
intracellular part (GO:0044424) 0.283COL5A2, COL1A1, COL5A1
extracellular matrix component (GO:0044420) 4.973COL5A2, COL1A1, COL5A1
proteinaceous extracellular matrix (GO:0005578) 4.013COL5A2, COL1A1, COL5A1
organelle part (GO:0044422) 0.793COL5A2, COL1A1, COL5A1
extracellular region (GO:0005576) 2.183COL5A2, COL1A1, COL5A1
collagen type V trimer (GO:0005588) 8.72COL5A2, COL5A1
membrane-bounded vesicle (GO:0031988) 1.712COL5A1, COL1A1
membrane-bounded organelle (GO:0043227) 0.472COL5A1, COL1A1
organelle (GO:0043226) 0.42COL5A1, COL1A1
vesicle (GO:0031982) 1.642COL5A1, COL1A1

NET-GE enrichment

Term New enriched termICP valueGenes
basement membrane (GO:0005604) NEW5.340.027COL5A1, COL1A1
collagen trimer (GO:0005581) -5.210.0COL5A2, COL1A1, COL5A1
fibrillar collagen trimer (GO:0005583) -7.320.0COL5A2, COL1A1, COL5A1
organelle lumen (GO:0043233) -3.050.001COL5A2, COL1A1, COL5A1
collagen type V trimer (GO:0005588) -8.70.0COL5A2, COL5A1
endoplasmic reticulum lumen (GO:0005788) -4.50.001COL5A2, COL1A1, COL5A1
extracellular matrix (GO:0031012) -3.810.007COL5A2, COL1A1, COL5A1
endoplasmic reticulum part (GO:0044432) -2.730.006COL5A2, COL1A1, COL5A1
extracellular region (GO:0005576) -2.180.018COL5A2, COL1A1, COL5A1
membrane-enclosed lumen (GO:0031974) -3.050.001COL5A2, COL1A1, COL5A1
extracellular matrix part (GO:0044420) -4.970.001COL5A2, COL1A1, COL5A1
intracellular organelle lumen (GO:0070013) -3.050.001COL5A2, COL1A1, COL5A1