| GENE NAME | COL6A1 |
| CHROMOSOME | 21 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000142156 |
| UNIPROT ACCESSION NUMBER | P12109 |
| GO MOLECULAR FUNCTION | ['collagen binding', 'extracellular matrix structural constituent conferring tensile strength', 'platelet-derived growth factor binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; 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 |
| 3 combinations linked to COL6A1 | OLI134; OLI1048; OLI1327 |
| 3 variants linked to COL6A1 | COL6A1:c.823G>T, p.Gly275Trp; COL6A1:c.350T>C, p.Val117Ala; COL6A1:c.1712A>C, |
| 3 diseases linked to COL6A1 | Bethlem myopathy; Primary ovarian failure; NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |