| GENE NAME | MKS1 |
| CHROMOSOME | 17 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000011143 |
| UNIPROT ACCESSION NUMBER | Q9NXB0 |
| GO MOLECULAR FUNCTION | ['protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-162582; R-HSA-1852241; R-HSA-5358351; R-HSA-5610787; R-HSA-5617833; R-HSA-5620912 |
| 5 combinations linked to MKS1 | OLI686; OLI1447; OLI1443; OLI1666; OLI1146 |
| 5 variants linked to MKS1 | MKS1:p.Gly255Arg; MKS1:c.1423C>T, p.Arg475Cys; MKS1:c.1318G>A, p.Gly440Ser; MKS1:c.1136C>G, p.Ala379Gly; MKS1:c.1505C>G, p.Ser502Trp |
| 2 diseases linked to MKS1 | Holoprosencephaly; Bardet-Biedl syndrome |