| GENE NAME | BBS9 |
| CHROMOSOME | 7 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000122507 |
| UNIPROT ACCESSION NUMBER | Q3SYG4 |
| GO MOLECULAR FUNCTION | ['molecular_function', 'protein binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922 |
| 9 combinations linked to BBS9 | OLI615; OLI1123; OLI418; OLI087; OLI1131; OLI1451; OLI141; OLI1452; OLI1133 |
| 10 variants linked to BBS9 | BBS9:p.Thr549Ile; BBS9:p.Leu665Phe; BBS9:c.396G>C, p.Gln132His; BBS9:c.1063C>T, p.Gln355Ter; BBS9:c.1606C>T, p.Leu536=; BBS9:c.1993C>T, p.Leu665Phe; BBS9:c.2336T>A, p.Leu779Gln; BBS9:c.376A>T, p.Met126Leu; BBS9:c.1789C>T, p.Gln597Ter; BBS9:c.2349C>A, p.Cys783Ter |
| 3 diseases linked to BBS9 | Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome |