Disease ID | Disease name | Source of annotation with COL5A1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
154700 | MARFAN SYNDROME | ClinVar | link to OMIM | 8 | NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1 |
PS109730 | AORTIC VALVE DISEASE | ClinVar | link to OMIM | 4 | NOTCH1, GATA5, SMAD6, COL5A1 |
130000 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | COL1A1, COL5A1, COL5A2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Platelet activation | hsa04611 | 5.66 |
Protein digestion and absorption | hsa04974 | 6.2 |
Amoebiasis | hsa05146 | 5.82 |
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 |
Signaling by PDGF | R-HSA-186797 | 4.53 |
Axon guidance | R-HSA-422475 | 3.93 |
Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
Collagen degradation | R-HSA-1442490 | 7.03 |
ECM proteoglycans | R-HSA-3000178 | 6.75 |
NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
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 |
Syndecan interactions | R-HSA-3000170 | 8.23 |
Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
Developmental Biology | R-HSA-1266738 | 3.48 |
GO term | GO ID | GO IC |
---|---|---|
sulfur compound binding | GO:1901681 | 4.32 |
integrin binding | GO:0005178 | 5.07 |
extracellular matrix structural constituent | GO:0005201 | 5.37 |
metal ion binding | GO:0046872 | 1.41 |
cation binding | GO:0043169 | 1.4 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
growth factor binding | GO:0019838 | 4.89 |
ion binding | GO:0043167 | 1.36 |
glycosaminoglycan binding | GO:0005539 | 4.42 |
cell adhesion molecule binding | GO:0050839 | 4.5 |
proteoglycan binding | GO:0043394 | 6.34 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein complex binding | GO:0032403 | 3.09 |
platelet-derived growth factor binding | GO:0048407 | 7.34 |
receptor binding | GO:0005102 | 2.43 |
structural molecule activity | GO:0005198 | 3.1 |
heparin binding | GO:0008201 | 4.68 |
glycoprotein binding | GO:0001948 | 5.11 |