| GENE NAME | ALMS1 |
| CHROMOSOME | 2 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000116127 |
| UNIPROT ACCESSION NUMBER | None |
| GO MOLECULAR FUNCTION | ['molecular_function', 'microtubule binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-1640170; R-HSA-1852241; R-HSA-2565942; R-HSA-380259; R-HSA-380270; R-HSA-380284; R-HSA-380287; R-HSA-380320; R-HSA-453274; R-HSA-5617833; R-HSA-5620912; R-HSA-68877; R-HSA-68886; R-HSA-69275; R-HSA-69278; R-HSA-8854518 |
| 3 combinations linked to ALMS1 | OLI615; OLI1442; OLI402 |
| 3 variants linked to ALMS1 | Copy Number Variant deletion on chromosome 2 of the exon2 15 in the gene ALMS1; ALMS1:c.6699_6702del, p.Lys2234GlnfsTer31; ALMS1:c.11638C>T, p.His3880Tyr |
| 2 diseases linked to ALMS1 | Non-acquired combined pituitary hormone deficiency; Bardet-Biedl syndrome |