Disease ID | Disease name | Source of annotation with COL9A2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS108300 | STICKLER SYNDROME | OMIM | link to OMIM | 5 | COL11A2, COL11A1, COL2A1, COL9A2, COL9A1 |
PS132400 | EPIPHYSEAL DYSPLASIA, MULTIPLE | ClinVar, OMIM | link to OMIM | 6 | COMP, COL9A3, MATN3, COL9A2, SLC26A2, COL9A1 |
603932 | INTERVERTEBRAL DISC DISEASE | OMIM, HUMSAVAR | link to OMIM | 6 | ASPN, COL9A3, COL11A1, CILP, COL9A2, THBS2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein digestion and absorption | hsa04974 | 6.2 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Integrin cell surface interactions | R-HSA-216083 | 6.57 |
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 |
Signaling by PDGF | R-HSA-186797 | 4.53 |
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
Axon guidance | R-HSA-422475 | 3.93 |
Developmental Biology | R-HSA-1266738 | 3.48 |
GO term | GO ID | GO IC |
---|---|---|
extracellular matrix structural constituent | GO:0005201 | 5.37 |
structural molecule activity | GO:0005198 | 3.1 |
extracellular matrix structural constituent conferring tensile strength | GO:0030020 | 7.95 |