Disease ID | Disease name | Source of annotation with CRTAP | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS166200 | OSTEOGENESIS IMPERFECTA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | FKBP10, SPARC, IFITM5, PPIB, BMP1, TMEM38B, P3H1, COL1A1, COL1A2, CRTAP, WNT1, SERPINF1, SP7, SERPINH1 |
Download the gene annotation in CSV format
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 |
GO term | GO ID | GO IC |
---|---|---|
protein complex binding | GO:0032403 | 3.09 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |