Disease ID | Disease name | Source of annotation with COL27A1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
615155 | STEEL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL27A1 |
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 |
---|---|---|
Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Collagen formation | R-HSA-1474290 | 6.56 |
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
extracellular matrix structural constituent | GO:0005201 | 5.37 |
structural molecule activity | GO:0005198 | 3.1 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
metal ion binding | GO:0046872 | 1.41 |