Disease ID | Disease name | Source of annotation with COL12A1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS158810 | BETHLEM MYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | COL6A2, COL12A1, COL6A3, COL6A1 |
PS254090 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY | ClinVar, OMIM | link to OMIM | 4 | COL6A2, COL12A1, COL6A3, COL6A1 |
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 |
---|---|---|
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Collagen formation | R-HSA-1474290 | 6.56 |
Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
Collagen degradation | R-HSA-1442490 | 7.03 |
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 |