Disease table of KNOBLOCH SYNDROME 1 OMIM ID: 267750

Gene-disease associations table

GeneAssociated with KNOBLOCH SYNDROME 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL18A1ClinVar, OMIMHGNC link21q22.31267750
ADAMTS18ClinVarHGNC link16q23.12615458, 267750

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
COL18A1YES3SP1, FOXA2, NFIC0
Interactions from BIOGRID - physical
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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Extracellular matrix organizationR-HSA-14742444.912ADAMTS18, COL18A1
Degradation of the extracellular matrixR-HSA-14742286.112ADAMTS18, COL18A1

NET-GE enrichment

Term New enriched termICP valueGenes
Extracellular matrix organization (R-HSA-1474244) -4.910.016ADAMTS18, COL18A1
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.017ADAMTS18, COL18A1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42ADAMTS18, COL18A1
metal ion binding (GO:0046872) 1.412ADAMTS18, COL18A1
binding (GO:0005488) 0.182ADAMTS18, COL18A1
ion binding (GO:0043167) 1.362ADAMTS18, COL18A1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362ADAMTS18, COL18A1
regulation of cellular process (GO:0050794) 0.52ADAMTS18, COL18A1
single-organism developmental process (GO:0044767) 1.492ADAMTS18, COL18A1
organic substance metabolic process (GO:0071704) 0.632ADAMTS18, COL18A1
biological regulation (GO:0065007) 0.392ADAMTS18, COL18A1
negative regulation of cellular process (GO:0048523) 1.412ADAMTS18, COL18A1
metabolic process (GO:0008152) 0.582ADAMTS18, COL18A1
negative regulation of biological process (GO:0048519) 1.332ADAMTS18, COL18A1
macromolecule metabolic process (GO:0043170) 0.832ADAMTS18, COL18A1
regulation of biological process (GO:0050789) 0.452ADAMTS18, COL18A1
single-organism process (GO:0044699) 0.482ADAMTS18, COL18A1

NET-GE enrichment

Term New enriched termICP valueGenes
integrin-mediated signaling pathway (GO:0007229) NEW5.170.02ADAMTS18, COL18A1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
proteinaceous extracellular matrix (GO:0005578) 4.012ADAMTS18, COL18A1
extracellular region (GO:0005576) 2.182ADAMTS18, COL18A1
extracellular region part (GO:0044421) 1.572ADAMTS18, COL18A1
extracellular matrix (GO:0031012) 3.812ADAMTS18, COL18A1

NET-GE enrichment

Term New enriched termICP valueGenes
proteinaceous extracellular matrix (GO:0005578) -4.010.043ADAMTS18, COL18A1
extracellular matrix (GO:0031012) -3.810.007ADAMTS18, COL18A1