Disease ID | Disease name | Source of annotation with COL4A1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
607595 | BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL4A1 |
PS175780 | PORENCEPHALY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | COL4A1, COL4A2 |
614519 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | ACE, COL4A2, COL4A1 |
611773 | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL4A1 |
180000 | RETINAL ARTERIES, TORTUOSITY OF | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL4A1 |
269160 | SCHIZENCEPHALY | HUMSAVAR | link to OMIM | 4 | SIX3, EMX2, COL4A1, SHH |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein digestion and absorption | hsa04974 | 6.2 |
Pathways in cancer | hsa05200 | 3.98 |
Amoebiasis | hsa05146 | 5.82 |
Small cell lung cancer | hsa05222 | 6.17 |
Focal adhesion | hsa04510 | 4.92 |
ECM-receptor interaction | hsa04512 | 6.09 |
PI3K-Akt signaling pathway | hsa04151 | 4.21 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Integrin cell surface interactions | R-HSA-216083 | 6.57 |
Laminin interactions | R-HSA-3000157 | 8.08 |
NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
Anchoring fibril formation | R-HSA-2214320 | 9.08 |
Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
Collagen degradation | R-HSA-1442490 | 7.03 |
ECM proteoglycans | R-HSA-3000178 | 6.75 |
Scavenging by Class A Receptors | R-HSA-3000480 | 8.73 |
NCAM1 interactions | R-HSA-419037 | 7.59 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Collagen formation | R-HSA-1474290 | 6.56 |
Signal Transduction | R-HSA-162582 | 1.78 |
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
Signaling by PDGF | R-HSA-186797 | 4.53 |
Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
Axon guidance | R-HSA-422475 | 3.93 |
Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 |
Developmental Biology | R-HSA-1266738 | 3.48 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
GO term | GO ID | GO IC |
---|---|---|
extracellular matrix structural constituent | GO:0005201 | 5.37 |
extracellular matrix constituent conferring elasticity | GO:0030023 | 7.95 |
growth factor binding | GO:0019838 | 4.89 |
structural molecule activity | GO:0005198 | 3.1 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
platelet-derived growth factor binding | GO:0048407 | 7.34 |
structural molecule activity conferring elasticity | GO:0097493 | 7.66 |