Disease table of EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE OMIM ID: 130020

Gene-disease associations table

GeneAssociated with EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL3A1ClinVar, HUMSAVARHGNC link2q32.23154700, 130020, 130050
TNXBClinVarHGNC link6p21.323606408, 130020, PS193000
NOTCH1ClinVarHGNC link9q34.36PS109730, 130020, 154700, 234750, 140500, PS100300

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
NOTCH1YES1SIRT10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
COL3A1NOTCH1No1CAND1

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

Interactions from BIOGRID - genetic
Interactions from STRING
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
MicroRNAs in cancerhsa052065.382NOTCH1, TNXB
ECM-receptor interactionhsa045126.092COL3A1, TNXB
Focal adhesionhsa045104.922COL3A1, TNXB
PI3K-Akt signaling pathwayhsa041514.212COL3A1, TNXB

NET-GE enrichment

Term New enriched termICP valueGenes
MicroRNAs in cancer (hsa05206) -5.380.044NOTCH1, TNXB
ECM-receptor interaction (hsa04512) -6.090.016COL3A1, TNXB
Focal adhesion (hsa04510) -4.920.008COL3A1, NOTCH1, TNXB
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
ECM proteoglycansR-HSA-30001786.752COL3A1, TNXB
Extracellular matrix organizationR-HSA-14742444.912COL3A1, TNXB
Signal TransductionR-HSA-1625821.782COL3A1, NOTCH1
Developmental BiologyR-HSA-12667383.482COL3A1, NOTCH1

NET-GE enrichment

Term New enriched termICP valueGenes
ECM proteoglycans (R-HSA-3000178) -6.750.012COL3A1, TNXB
Extracellular matrix organization (R-HSA-1474244) -4.910.039COL3A1, NOTCH1, TNXB
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
receptor binding (GO:0005102) 2.433COL3A1, NOTCH1, TNXB
macromolecular complex binding (GO:0044877) 2.613COL3A1, NOTCH1, TNXB
binding (GO:0005488) 0.183COL3A1, NOTCH1, TNXB
protein binding (GO:0005515) 0.463COL3A1, NOTCH1, TNXB
cation binding (GO:0043169) 1.42COL3A1, NOTCH1
cell adhesion molecule binding (GO:0050839) 4.52COL3A1, TNXB
integrin binding (GO:0005178) 5.072COL3A1, TNXB
ion binding (GO:0043167) 1.362COL3A1, NOTCH1
protein complex binding (GO:0032403) 3.092COL3A1, TNXB
metal ion binding (GO:0046872) 1.412COL3A1, NOTCH1

NET-GE enrichment

Term New enriched termICP valueGenes
integrin binding (GO:0005178) -5.070.004COL3A1, TNXB
extracellular matrix structural constituent (GO:0005201) NEW5.370.039COL3A1, NOTCH1
cell adhesion molecule binding (GO:0050839) -4.50.003COL3A1, NOTCH1, TNXB
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
macromolecule metabolic process (GO:0043170) 0.833COL3A1, NOTCH1, TNXB
primary metabolic process (GO:0044238) 0.693COL3A1, NOTCH1, TNXB
regulation of intracellular signal transduction (GO:1902531) 2.313COL3A1, NOTCH1, TNXB
single-multicellular organism process (GO:0044707) 1.783COL3A1, NOTCH1, TNXB
regulation of signal transduction (GO:0009966) 1.843COL3A1, NOTCH1, TNXB
cellular process (GO:0009987) 0.263COL3A1, NOTCH1, TNXB
regulation of response to stimulus (GO:0048583) 1.543COL3A1, NOTCH1, TNXB
cellular metabolic process (GO:0044237) 0.693COL3A1, NOTCH1, TNXB
regulation of cellular process (GO:0050794) 0.53COL3A1, NOTCH1, TNXB
organic substance metabolic process (GO:0071704) 0.633COL3A1, NOTCH1, TNXB
multicellular organismal process (GO:0032501) 1.453COL3A1, NOTCH1, TNXB
single-organism cellular process (GO:0044763) 0.653COL3A1, NOTCH1, TNXB
cellular component organization or biogenesis (GO:0071840) 1.223COL3A1, NOTCH1, TNXB
metabolic process (GO:0008152) 0.583COL3A1, NOTCH1, TNXB
regulation of signaling (GO:0023051) 1.723COL3A1, NOTCH1, TNXB
biological regulation (GO:0065007) 0.393COL3A1, NOTCH1, TNXB
regulation of cell communication (GO:0010646) 1.733COL3A1, NOTCH1, TNXB
regulation of biological process (GO:0050789) 0.453COL3A1, NOTCH1, TNXB
single-organism process (GO:0044699) 0.483COL3A1, NOTCH1, TNXB
cellular component organization (GO:0016043) 1.243COL3A1, NOTCH1, TNXB
developmental process (GO:0032502) 1.362COL3A1, NOTCH1
response to nitrogen compound (GO:1901698) 3.122COL3A1, NOTCH1
negative regulation of neurogenesis (GO:0050768) 4.222COL3A1, NOTCH1
regulation of multicellular organismal process (GO:0051239) 1.872COL3A1, NOTCH1
regulation of metabolic process (GO:0019222) 1.022NOTCH1, TNXB
macromolecular complex subunit organization (GO:0043933) 2.142COL3A1, TNXB
negative regulation of response to stimulus (GO:0048585) 2.522COL3A1, NOTCH1
positive regulation of response to stimulus (GO:0048584) 2.182COL3A1, NOTCH1
regulation of cellular metabolic process (GO:0031323) 1.072NOTCH1, TNXB
cell-matrix adhesion (GO:0007160) 5.132COL3A1, TNXB
negative regulation of locomotion (GO:0040013) 4.222COL3A1, NOTCH1
signal transduction (GO:0007165) 1.282COL3A1, NOTCH1
cell surface receptor signaling pathway (GO:0007166) 2.092COL3A1, NOTCH1
collagen metabolic process (GO:0032963) 5.422COL3A1, TNXB
negative regulation of cell development (GO:0010721) 4.022COL3A1, NOTCH1
positive regulation of cell communication (GO:0010647) 2.412COL3A1, NOTCH1
cellular response to chemical stimulus (GO:0070887) 2.572COL3A1, NOTCH1
regulation of primary metabolic process (GO:0080090) 1.082NOTCH1, TNXB
response to endogenous stimulus (GO:0009719) 2.792COL3A1, NOTCH1
regulation of neurogenesis (GO:0050767) 3.212COL3A1, NOTCH1
cellular response to stimulus (GO:0051716) 1.972COL3A1, NOTCH1
anatomical structure morphogenesis (GO:0009653) 2.532COL3A1, NOTCH1
cellular macromolecule metabolic process (GO:0044260) 0.932COL3A1, NOTCH1
extracellular fibril organization (GO:0043206) 7.162COL3A1, TNXB
positive regulation of signal transduction (GO:0009967) 2.52COL3A1, NOTCH1
fibril organization (GO:0097435) 6.782COL3A1, TNXB
negative regulation of multicellular organismal process (GO:0051241) 2.842COL3A1, NOTCH1
collagen fibril organization (GO:0030199) 6.072COL3A1, TNXB
regulation of cell development (GO:0060284) 3.012COL3A1, NOTCH1
regulation of macromolecule metabolic process (GO:0060255) 1.082NOTCH1, TNXB
cellular response to organic substance (GO:0071310) 2.782COL3A1, NOTCH1
animal organ development (GO:0048513) 2.532COL3A1, NOTCH1
regulation of immune system process (GO:0002682) 2.52COL3A1, NOTCH1
negative regulation of immune system process (GO:0002683) 3.852COL3A1, NOTCH1
tissue morphogenesis (GO:0048729) 3.872COL3A1, NOTCH1
extracellular structure organization (GO:0043062) 4.02COL3A1, TNXB
positive regulation of biological process (GO:0048518) 1.22COL3A1, NOTCH1
regulation of cell motility (GO:2000145) 3.162COL3A1, NOTCH1
regulation of molecular function (GO:0065009) 1.782NOTCH1, TNXB
biological adhesion (GO:0022610) 2.812COL3A1, TNXB
cellular response to endogenous stimulus (GO:0071495) 3.332COL3A1, NOTCH1
negative regulation of cell migration (GO:0030336) 4.412COL3A1, NOTCH1
cell-substrate adhesion (GO:0031589) 4.752COL3A1, TNXB
regulation of cell migration (GO:0030334) 3.232COL3A1, NOTCH1
heart development (GO:0007507) 4.242COL3A1, NOTCH1
regulation of developmental process (GO:0050793) 2.12COL3A1, NOTCH1
protein complex subunit organization (GO:0071822) 2.62COL3A1, TNXB
regulation of catalytic activity (GO:0050790) 1.972NOTCH1, TNXB
single-organism metabolic process (GO:0044710) 1.632COL3A1, TNXB
positive regulation of intracellular signal transduction (GO:1902533) 2.952COL3A1, NOTCH1
single-organism developmental process (GO:0044767) 1.492COL3A1, NOTCH1
negative regulation of cell differentiation (GO:0045596) 3.332COL3A1, NOTCH1
response to stress (GO:0006950) 1.82COL3A1, NOTCH1
regulation of locomotion (GO:0040012) 3.122COL3A1, NOTCH1
multicellular organismal macromolecule metabolic process (GO:0044259) 5.362COL3A1, TNXB
negative regulation of biological process (GO:0048519) 1.332COL3A1, NOTCH1
cell adhesion (GO:0007155) 2.822COL3A1, TNXB
response to chemical (GO:0042221) 1.982COL3A1, NOTCH1
tube development (GO:0035295) 4.412COL3A1, NOTCH1
regulation of localization (GO:0032879) 1.942COL3A1, NOTCH1
response to organic substance (GO:0010033) 2.22COL3A1, NOTCH1
extracellular matrix organization (GO:0030198) 4.012COL3A1, TNXB
response to oxygen-containing compound (GO:1901700) 2.572COL3A1, NOTCH1
positive regulation of signaling (GO:0023056) 2.412COL3A1, NOTCH1
negative regulation of cellular component movement (GO:0051271) 4.222COL3A1, NOTCH1
regulation of cellular component movement (GO:0051270) 3.082COL3A1, NOTCH1
negative regulation of developmental process (GO:0051093) 3.172COL3A1, NOTCH1
response to external stimulus (GO:0009605) 2.552COL3A1, NOTCH1
response to stimulus (GO:0050896) 1.222COL3A1, NOTCH1
anatomical structure development (GO:0048856) 1.582COL3A1, NOTCH1
regulation of cell differentiation (GO:0045595) 2.422COL3A1, NOTCH1
multicellular organism metabolic process (GO:0044236) 5.22COL3A1, TNXB
negative regulation of nervous system development (GO:0051961) 4.152COL3A1, NOTCH1
regulation of nervous system development (GO:0051960) 3.12COL3A1, NOTCH1
regulation of multicellular organismal development (GO:2000026) 2.312COL3A1, NOTCH1
muscle tissue morphogenesis (GO:0060415) 5.622COL3A1, NOTCH1
negative regulation of cell motility (GO:2000146) 4.362COL3A1, NOTCH1
response to organonitrogen compound (GO:0010243) 3.22COL3A1, NOTCH1
negative regulation of cellular process (GO:0048523) 1.412COL3A1, NOTCH1
positive regulation of cellular process (GO:0048522) 1.32COL3A1, NOTCH1

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular fibril organization (GO:0043206) -7.160.005COL3A1, TNXB
fibril organization (GO:0097435) -6.780.001COL3A1, TNXB
multicellular organismal metabolic process (GO:0044236) -5.20.002COL3A1, NOTCH1, TNXB
collagen fibril organization (GO:0030199) -6.070.009COL3A1, TNXB
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.002COL3A1, NOTCH1, TNXB
collagen metabolic process (GO:0032963) -5.420.001COL3A1, NOTCH1, TNXB
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.513COL3A1, NOTCH1, TNXB
cell part (GO:0044464) 0.113COL3A1, NOTCH1, TNXB
extracellular region (GO:0005576) 2.183COL3A1, NOTCH1, TNXB
macromolecular complex (GO:0032991) 1.353COL3A1, NOTCH1, TNXB
vesicle (GO:0031982) 1.642NOTCH1, TNXB
fibrillar collagen trimer (GO:0005583) 7.322COL3A1, TNXB
extracellular matrix component (GO:0044420) 4.972COL3A1, TNXB
proteinaceous extracellular matrix (GO:0005578) 4.012COL3A1, TNXB
extracellular region part (GO:0044421) 1.572COL3A1, TNXB
intracellular organelle part (GO:0044446) 0.812COL3A1, NOTCH1
endoplasmic reticulum part (GO:0044432) 2.732COL3A1, NOTCH1
cytoplasmic part (GO:0044444) 0.822COL3A1, NOTCH1
collagen trimer (GO:0005581) 5.212COL3A1, TNXB
intracellular part (GO:0044424) 0.282COL3A1, NOTCH1
membrane-bounded vesicle (GO:0031988) 1.712NOTCH1, TNXB
extracellular matrix (GO:0031012) 3.812COL3A1, TNXB
membrane-bounded organelle (GO:0043227) 0.472NOTCH1, TNXB
organelle (GO:0043226) 0.42NOTCH1, TNXB
organelle part (GO:0044422) 0.792COL3A1, NOTCH1
extracellular space (GO:0005615) 2.632COL3A1, TNXB

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix (GO:0031012) -3.810.038COL3A1, NOTCH1, TNXB