| GENE NAME | COL9A3 |
| CHROMOSOME | 20 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000092758 |
| UNIPROT ACCESSION NUMBER | None |
| GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent conferring tensile strength', 'extracellular matrix structural constituent'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; R-HSA-1266738; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-162582; R-HSA-1650814; R-HSA-186797; R-HSA-2022090; R-HSA-216083; R-HSA-3000178; R-HSA-375165; R-HSA-419037; R-HSA-422475; R-HSA-8948216; R-HSA-9006934; R-HSA-9675108 |
| 2 combinations linked to COL9A3 | OLI600; OLI1689 |
| 2 variants linked to COL9A3 | COL9A3:c.116C>G, p.Pro39Arg; COL9A3:c.736C>T, p.Arg246Trp |
| 2 diseases linked to COL9A3 | Disorder of sex development; Non-Syndromic genetic keratoconus |