Disease table of ALPORT SYNDROME, AUTOSOMAL RECESSIVE OMIM ID: 203780

Gene-disease associations table

GeneAssociated with ALPORT SYNDROME, AUTOSOMAL RECESSIVE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL4A4OMIM, HUMSAVARHGNC link2q36.32141200, 203780
COL4A3OMIM, HUMSAVARHGNC link2q36.33104200, 141200, 203780

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 1482COL4A3, COL4A4
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
2q36.32COL4A3, COL4A4
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
2q362COL4A3, COL4A4
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2q32COL4A3, COL4A4
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2q2COL4A3, COL4A4
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
22COL4A3, COL4A4
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL4A4YES1LMX1B0
COL4A3YES1ZEB10
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
Gene1Gene2Direct interactionMore information
COL4A3COL4A4yes, complexThe alpha 3 chain forms a triple helical protomer with alpha 4 and alpha 5. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Protein digestion and absorptionhsa049746.22COL4A4, COL4A3
Pathways in cancerhsa052003.982COL4A4, COL4A3
Amoebiasishsa051465.822COL4A4, COL4A3
Small cell lung cancerhsa052226.172COL4A4, COL4A3
Focal adhesionhsa045104.922COL4A4, COL4A3
ECM-receptor interactionhsa045126.092COL4A4, COL4A3
PI3K-Akt signaling pathwayhsa041514.212COL4A4, COL4A3

NET-GE enrichment

Term New enriched termICP valueGenes
Protein digestion and absorption (hsa04974) -6.20.007COL4A4, COL4A3
Infectious diseases: ParasiticNEW4.460.039COL4A4, COL4A3
ECM-receptor interaction (hsa04512) -6.090.006COL4A4, COL4A3
Small cell lung cancer (hsa05222) -6.170.004COL4A4, COL4A3
Focal adhesion (hsa04510) -4.920.021COL4A4, COL4A3
Amoebiasis (hsa05146) -5.820.018COL4A4, COL4A3
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-2160836.572COL4A4, COL4A3
Laminin interactionsR-HSA-30001578.082COL4A4, COL4A3
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.22COL4A4, COL4A3
Anchoring fibril formationR-HSA-22143209.082COL4A4, COL4A3
Degradation of the extracellular matrixR-HSA-14742286.112COL4A4, COL4A3
Collagen degradationR-HSA-14424907.032COL4A4, COL4A3
ECM proteoglycansR-HSA-30001786.752COL4A4, COL4A3
NCAM signaling for neurite out-growthR-HSA-3751654.92COL4A4, COL4A3
NCAM1 interactionsR-HSA-4190377.592COL4A4, COL4A3
Extracellular matrix organizationR-HSA-14742444.912COL4A4, COL4A3
Collagen formationR-HSA-14742906.562COL4A4, COL4A3
Developmental BiologyR-HSA-12667383.482COL4A4, COL4A3
Signaling by PDGFR-HSA-1867974.532COL4A4, COL4A3
Non-integrin membrane-ECM interactionsR-HSA-30001717.12COL4A4, COL4A3
Axon guidanceR-HSA-4224753.932COL4A4, COL4A3
Collagen biosynthesis and modifying enzymesR-HSA-16508146.982COL4A4, COL4A3
Signal TransductionR-HSA-1625821.782COL4A4, COL4A3

NET-GE enrichment

Term New enriched termICP valueGenes
Integrin cell surface interactions (R-HSA-216083) -6.570.003COL4A4, COL4A3
Laminin interactions (R-HSA-3000157) -8.080.0COL4A4, COL4A3
Anchoring fibril formation (R-HSA-2214320) -9.080.0COL4A4, COL4A3
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.014COL4A4, COL4A3
Collagen degradation (R-HSA-1442490) -7.030.001COL4A4, COL4A3
ECM proteoglycans (R-HSA-3000178) -6.750.004COL4A4, COL4A3
NCAM signaling for neurite out-growth (R-HSA-375165) -4.90.02COL4A4, COL4A3
NCAM1 interactions (R-HSA-419037) -7.590.001COL4A4, COL4A3
Extracellular matrix organization (R-HSA-1474244) -4.910.02COL4A4, COL4A3
Collagen formation (R-HSA-1474290) -6.560.002COL4A4, COL4A3
Signaling by PDGF (R-HSA-186797) -4.530.034COL4A4, COL4A3
Non-integrin membrane-ECM interactions (R-HSA-3000171) -7.10.002COL4A4, COL4A3
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.003COL4A4, COL4A3
Collagen biosynthesis and modifying enzymes (R-HSA-1650814) -6.980.002COL4A4, COL4A3
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular matrix structural constituent (GO:0005201) 5.372COL4A4, COL4A3
structural molecule activity (GO:0005198) 3.12COL4A4, COL4A3

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix structural constituent (GO:0005201) -5.370.005COL4A4, COL4A3
structural molecule activity (GO:0005198) -3.10.027COL4A4, COL4A3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
metabolic process (GO:0008152) 0.582COL4A4, COL4A3
collagen metabolic process (GO:0032963) 5.422COL4A4, COL4A3
multicellular organism catabolic process (GO:0044243) 5.472COL4A4, COL4A3
single-organism process (GO:0044699) 0.482COL4A4, COL4A3
single-organism catabolic process (GO:0044712) 3.212COL4A4, COL4A3
single-organism metabolic process (GO:0044710) 1.632COL4A4, COL4A3
multicellular organism metabolic process (GO:0044236) 5.22COL4A4, COL4A3
cellular component organization (GO:0016043) 1.242COL4A4, COL4A3
organic substance metabolic process (GO:0071704) 0.632COL4A4, COL4A3
cellular component organization or biogenesis (GO:0071840) 1.222COL4A4, COL4A3
extracellular structure organization (GO:0043062) 4.02COL4A4, COL4A3
developmental process (GO:0032502) 1.362COL4A4, COL4A3
multicellular organismal process (GO:0032501) 1.452COL4A4, COL4A3
glomerular basement membrane development (GO:0032836) 7.432COL4A4, COL4A3
cellular process (GO:0009987) 0.262COL4A4, COL4A3
single-organism developmental process (GO:0044767) 1.492COL4A4, COL4A3
single-organism cellular process (GO:0044763) 0.652COL4A4, COL4A3
multicellular organismal macromolecule metabolic process (GO:0044259) 5.362COL4A4, COL4A3
catabolic process (GO:0009056) 2.382COL4A4, COL4A3
single-multicellular organism process (GO:0044707) 1.782COL4A4, COL4A3
anatomical structure development (GO:0048856) 1.582COL4A4, COL4A3
collagen catabolic process (GO:0030574) 5.572COL4A4, COL4A3
macromolecule metabolic process (GO:0043170) 0.832COL4A4, COL4A3
extracellular matrix organization (GO:0030198) 4.012COL4A4, COL4A3

NET-GE enrichment

Term New enriched termICP valueGenes
neuron projection guidance (GO:0097485) NEW4.430.039COL4A4, COL4A3
glomerular basement membrane development (GO:0032836) -7.430.0COL4A4, COL4A3
extracellular structure organization (GO:0043062) -4.00.037COL4A4, COL4A3
collagen catabolic process (GO:0030574) -5.570.002COL4A4, COL4A3
multicellular organismal metabolic process (GO:0044236) -5.20.039COL4A4, COL4A3
extracellular matrix organization (GO:0030198) -4.010.037COL4A4, COL4A3
cellular component disassembly (GO:0022411) NEW3.520.035COL4A4, COL4A3
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.002COL4A4, COL4A3
collagen metabolic process (GO:0032963) -5.420.025COL4A4, COL4A3
axon guidance (GO:0007411) NEW4.440.039COL4A4, COL4A3
multicellular organismal catabolic process (GO:0044243) -5.470.025COL4A4, COL4A3
extracellular matrix disassembly (GO:0022617) NEW5.380.004COL4A4, COL4A3
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane-enclosed lumen (GO:0031974) 3.052COL4A4, COL4A3
extracellular matrix (GO:0031012) 3.812COL4A4, COL4A3
collagen type IV trimer (GO:0005587) 8.012COL4A4, COL4A3
collagen trimer (GO:0005581) 5.212COL4A4, COL4A3
endoplasmic reticulum part (GO:0044432) 2.732COL4A4, COL4A3
network-forming collagen trimer (GO:0098642) 7.862COL4A4, COL4A3
endoplasmic reticulum lumen (GO:0005788) 4.52COL4A4, COL4A3
protein complex (GO:0043234) 1.512COL4A4, COL4A3
basement membrane (GO:0005604) 5.342COL4A4, COL4A3
macromolecular complex (GO:0032991) 1.352COL4A4, COL4A3
organelle lumen (GO:0043233) 3.052COL4A4, COL4A3
cell part (GO:0044464) 0.112COL4A4, COL4A3
proteinaceous extracellular matrix (GO:0005578) 4.012COL4A4, COL4A3
intracellular organelle part (GO:0044446) 0.812COL4A4, COL4A3
intracellular organelle lumen (GO:0070013) 3.052COL4A4, COL4A3
cytoplasmic part (GO:0044444) 0.822COL4A4, COL4A3
extracellular region (GO:0005576) 2.182COL4A4, COL4A3
intracellular part (GO:0044424) 0.282COL4A4, COL4A3
extracellular matrix component (GO:0044420) 4.972COL4A4, COL4A3
extracellular region part (GO:0044421) 1.572COL4A4, COL4A3
organelle part (GO:0044422) 0.792COL4A4, COL4A3
basement membrane collagen trimer (GO:0098651) 7.722COL4A4, COL4A3

NET-GE enrichment

Term New enriched termICP valueGenes
collagen type IV trimer (GO:0005587) -8.010.0COL4A4, COL4A3
collagen trimer (GO:0005581) -5.210.004COL4A4, COL4A3
organelle lumen (GO:0043233) -3.050.024COL4A4, COL4A3
endoplasmic reticulum lumen (GO:0005788) -4.50.029COL4A4, COL4A3
intracellular organelle lumen (GO:0070013) -3.050.02COL4A4, COL4A3
membrane-enclosed lumen (GO:0031974) -3.050.029COL4A4, COL4A3
basement membrane collagen trimer (GO:0098651) -7.720.0COL4A4, COL4A3
extracellular matrix part (GO:0044420) -4.970.001COL4A4, COL4A3
network-forming collagen trimer (GO:0098642) -7.860.0COL4A4, COL4A3