Disease table of PORENCEPHALY OMIM ID: PS175780

Gene-disease associations table

GeneAssociated with PORENCEPHALY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL4A2ClinVar, OMIM, HUMSAVARHGNC link13q342PS175780, 614519
COL4A1ClinVar, OMIM, HUMSAVARHGNC link13q346611773, 269160, PS175780, 607595, 614519, 180000

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 6062COL4A1, COL4A2
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
13q342COL4A1, COL4A2
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
13q342COL4A1, COL4A2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
13q32COL4A1, COL4A2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
13q2COL4A1, COL4A2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
132COL4A1, COL4A2
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL4A1YES1LMX1B0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
COL4A2COL4A1Yes3VHL, COL4A2, COL4A1

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
COL4A2COL4A1Yesbinding60COL24A1, COL8A1, COL14A1, BMP4, ITGB6, COL6A1, ITGA2B, COL11A1, COL4A5, COL10A1, COL9A2, ITGA11, ITGA9, COL25A1, ITGA6, ITGA5, COL21A1, SDC1, PTK2, COL19A1, COL20A1, CD44, COL23A1, ITGB5, COL12A1, ITGAV, ITGA4, COL15A1, COL7A1, COL13A1, COL28A1, ITGA3, ITGA7, COL5A3, COL27A1, SDC4, COL16A1, ITGB7, ITGB4, ALPL, ITGA2, COL22A1, COL6A2, ITGB8, ITGB1, ITGA8, COL9A1, COL9A3, COL2A1, COL17A1, COL4A6, IBSP, ITGA1, COL8A2, COL6A3, ENPP1, COL18A1, BMP2, 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
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
COL4A2COL4A1Yes2COL4A2, COL4A1

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

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 absorptionhsa049746.22COL4A2, COL4A1
Pathways in cancerhsa052003.982COL4A2, COL4A1
Amoebiasishsa051465.822COL4A2, COL4A1
Small cell lung cancerhsa052226.172COL4A2, COL4A1
Focal adhesionhsa045104.922COL4A2, COL4A1
ECM-receptor interactionhsa045126.092COL4A2, COL4A1
PI3K-Akt signaling pathwayhsa041514.212COL4A2, COL4A1

NET-GE enrichment

Term New enriched termICP valueGenes
Protein digestion and absorption (hsa04974) -6.20.007COL4A2, COL4A1
Infectious diseases: ParasiticNEW4.460.039COL4A2, COL4A1
ECM-receptor interaction (hsa04512) -6.090.006COL4A2, COL4A1
Small cell lung cancer (hsa05222) -6.170.004COL4A2, COL4A1
Focal adhesion (hsa04510) -4.920.021COL4A2, COL4A1
Amoebiasis (hsa05146) -5.820.018COL4A2, COL4A1
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-2160836.572COL4A2, COL4A1
Signaling by PDGFR-HSA-1867974.532COL4A2, COL4A1
Axon guidanceR-HSA-4224753.932COL4A2, COL4A1
Binding and Uptake of Ligands by Scavenger ReceptorsR-HSA-21737825.382COL4A2, COL4A1
Laminin interactionsR-HSA-30001578.082COL4A2, COL4A1
Anchoring fibril formationR-HSA-22143209.082COL4A2, COL4A1
Degradation of the extracellular matrixR-HSA-14742286.112COL4A2, COL4A1
Collagen degradationR-HSA-14424907.032COL4A2, COL4A1
ECM proteoglycansR-HSA-30001786.752COL4A2, COL4A1
NCAM signaling for neurite out-growthR-HSA-3751654.92COL4A2, COL4A1
NCAM1 interactionsR-HSA-4190377.592COL4A2, COL4A1
Extracellular matrix organizationR-HSA-14742444.912COL4A2, COL4A1
Collagen formationR-HSA-14742906.562COL4A2, COL4A1
Signal TransductionR-HSA-1625821.782COL4A2, COL4A1
Scavenging by Class A ReceptorsR-HSA-30004808.732COL4A2, COL4A1
Non-integrin membrane-ECM interactionsR-HSA-30001717.12COL4A2, COL4A1
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.22COL4A2, COL4A1
Collagen biosynthesis and modifying enzymesR-HSA-16508146.982COL4A2, COL4A1
Developmental BiologyR-HSA-12667383.482COL4A2, COL4A1
Vesicle-mediated transportR-HSA-56536564.332COL4A2, COL4A1

NET-GE enrichment

Term New enriched termICP valueGenes
Integrin cell surface interactions (R-HSA-216083) -6.570.002COL4A2, COL4A1
Signaling by PDGF (R-HSA-186797) -4.530.039COL4A2, COL4A1
Laminin interactions (R-HSA-3000157) -8.080.0COL4A2, COL4A1
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.003COL4A2, COL4A1
Anchoring fibril formation (R-HSA-2214320) -9.080.0COL4A2, COL4A1
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.018COL4A2, COL4A1
Collagen degradation (R-HSA-1442490) -7.030.003COL4A2, COL4A1
ECM proteoglycans (R-HSA-3000178) -6.750.002COL4A2, COL4A1
NCAM signaling for neurite out-growth (R-HSA-375165) -4.90.023COL4A2, COL4A1
NCAM1 interactions (R-HSA-419037) -7.590.001COL4A2, COL4A1
Extracellular matrix organization (R-HSA-1474244) -4.910.023COL4A2, COL4A1
Collagen formation (R-HSA-1474290) -6.560.007COL4A2, COL4A1
Scavenging by Class A Receptors (R-HSA-3000480) -8.730.0COL4A2, COL4A1
Non-integrin membrane-ECM interactions (R-HSA-3000171) -7.10.001COL4A2, COL4A1
Collagen biosynthesis and modifying enzymes (R-HSA-1650814) -6.980.001COL4A2, COL4A1
Binding and Uptake of Ligands by Scavenger Receptors (R-HSA-2173782) -5.380.012COL4A2, COL4A1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular matrix structural constituent (GO:0005201) 5.372COL4A2, COL4A1
binding (GO:0005488) 0.182COL4A2, COL4A1
protein binding (GO:0005515) 0.462COL4A2, COL4A1
structural molecule activity (GO:0005198) 3.12COL4A2, COL4A1

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix structural constituent (GO:0005201) -5.370.004COL4A2, COL4A1
structural molecule activity (GO:0005198) -3.10.014COL4A2, COL4A1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular response to endogenous stimulus (GO:0071495) 3.332COL4A2, COL4A1
metabolic process (GO:0008152) 0.582COL4A2, COL4A1
cell differentiation (GO:0030154) 2.142COL4A2, COL4A1
cellular response to chemical stimulus (GO:0070887) 2.572COL4A2, COL4A1
collagen metabolic process (GO:0032963) 5.422COL4A2, COL4A1
multicellular organism catabolic process (GO:0044243) 5.472COL4A2, COL4A1
single-organism process (GO:0044699) 0.482COL4A2, COL4A1
single-organism catabolic process (GO:0044712) 3.212COL4A2, COL4A1
cellular response to stimulus (GO:0051716) 1.972COL4A2, COL4A1
angiogenesis (GO:0001525) 4.152COL4A2, COL4A1
multicellular organism metabolic process (GO:0044236) 5.22COL4A2, COL4A1
cellular developmental process (GO:0048869) 1.822COL4A2, COL4A1
cellular component organization (GO:0016043) 1.242COL4A2, COL4A1
organic substance metabolic process (GO:0071704) 0.632COL4A2, COL4A1
cellular response to organic substance (GO:0071310) 2.782COL4A2, COL4A1
cellular component organization or biogenesis (GO:0071840) 1.222COL4A2, COL4A1
extracellular structure organization (GO:0043062) 4.02COL4A2, COL4A1
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012COL4A2, COL4A1
developmental process (GO:0032502) 1.362COL4A2, COL4A1
response to endogenous stimulus (GO:0009719) 2.792COL4A2, COL4A1
multicellular organismal process (GO:0032501) 1.452COL4A2, COL4A1
cellular process (GO:0009987) 0.262COL4A2, COL4A1
single-organism metabolic process (GO:0044710) 1.632COL4A2, COL4A1
single-organism developmental process (GO:0044767) 1.492COL4A2, COL4A1
single-organism cellular process (GO:0044763) 0.652COL4A2, COL4A1
multicellular organismal macromolecule metabolic process (GO:0044259) 5.362COL4A2, COL4A1
response to chemical (GO:0042221) 1.982COL4A2, COL4A1
catabolic process (GO:0009056) 2.382COL4A2, COL4A1
response to organic substance (GO:0010033) 2.22COL4A2, COL4A1
single-multicellular organism process (GO:0044707) 1.782COL4A2, COL4A1
response to stimulus (GO:0050896) 1.222COL4A2, COL4A1
collagen catabolic process (GO:0030574) 5.572COL4A2, COL4A1
macromolecule metabolic process (GO:0043170) 0.832COL4A2, COL4A1
extracellular matrix organization (GO:0030198) 4.012COL4A2, COL4A1

NET-GE enrichment

Term New enriched termICP valueGenes
neuron projection guidance (GO:0097485) NEW4.430.044COL4A2, COL4A1
extracellular structure organization (GO:0043062) -4.00.042COL4A2, COL4A1
collagen catabolic process (GO:0030574) -5.570.002COL4A2, COL4A1
multicellular organismal metabolic process (GO:0044236) -5.20.003COL4A2, COL4A1
extracellular matrix organization (GO:0030198) -4.010.041COL4A2, COL4A1
cellular component disassembly (GO:0022411) NEW3.520.039COL4A2, COL4A1
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.002COL4A2, COL4A1
collagen metabolic process (GO:0032963) -5.420.002COL4A2, COL4A1
axon guidance (GO:0007411) NEW4.440.044COL4A2, COL4A1
multicellular organismal catabolic process (GO:0044243) -5.470.002COL4A2, COL4A1
extracellular matrix disassembly (GO:0022617) NEW5.380.004COL4A2, COL4A1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane-enclosed lumen (GO:0031974) 3.052COL4A2, COL4A1
extracellular matrix (GO:0031012) 3.812COL4A2, COL4A1
collagen type IV trimer (GO:0005587) 8.012COL4A2, COL4A1
collagen trimer (GO:0005581) 5.212COL4A2, COL4A1
endoplasmic reticulum part (GO:0044432) 2.732COL4A2, COL4A1
network-forming collagen trimer (GO:0098642) 7.862COL4A2, COL4A1
endoplasmic reticulum lumen (GO:0005788) 4.52COL4A2, COL4A1
protein complex (GO:0043234) 1.512COL4A2, COL4A1
basement membrane (GO:0005604) 5.342COL4A2, COL4A1
macromolecular complex (GO:0032991) 1.352COL4A2, COL4A1
organelle lumen (GO:0043233) 3.052COL4A2, COL4A1
cell part (GO:0044464) 0.112COL4A2, COL4A1
extracellular region part (GO:0044421) 1.572COL4A2, COL4A1
intracellular organelle part (GO:0044446) 0.812COL4A2, COL4A1
intracellular organelle lumen (GO:0070013) 3.052COL4A2, COL4A1
cytoplasmic part (GO:0044444) 0.822COL4A2, COL4A1
extracellular region (GO:0005576) 2.182COL4A2, COL4A1
intracellular part (GO:0044424) 0.282COL4A2, COL4A1
extracellular matrix component (GO:0044420) 4.972COL4A2, COL4A1
proteinaceous extracellular matrix (GO:0005578) 4.012COL4A2, COL4A1
organelle part (GO:0044422) 0.792COL4A2, COL4A1
basement membrane collagen trimer (GO:0098651) 7.722COL4A2, COL4A1

NET-GE enrichment

Term New enriched termICP valueGenes
collagen type IV trimer (GO:0005587) -8.010.0COL4A2, COL4A1
collagen trimer (GO:0005581) -5.210.001COL4A2, COL4A1
organelle lumen (GO:0043233) -3.050.034COL4A2, COL4A1
endoplasmic reticulum lumen (GO:0005788) -4.50.02COL4A2, COL4A1
extracellular matrix (GO:0031012) -3.810.008COL4A2, COL4A1
intracellular organelle lumen (GO:0070013) -3.050.028COL4A2, COL4A1
basement membrane (GO:0005604) -5.340.004COL4A2, COL4A1
membrane-enclosed lumen (GO:0031974) -3.050.041COL4A2, COL4A1
network-forming collagen trimer (GO:0098642) -7.860.0COL4A2, COL4A1
extracellular matrix part (GO:0044420) -4.970.001COL4A2, COL4A1
basement membrane collagen trimer (GO:0098651) -7.720.0COL4A2, COL4A1