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COL11A1 - collagen type XI alpha 1 chain
- Synonym(s) : CO11A1, collagen XI, alpha-1 polypeptide, STL2
- Previous symbols and names : COLL6, collagen, type XI, alpha 1
- Type : gene with protein product
- Chromosomal location : 1p21.1
- OMIM: 120280
- HGNC: 2186
- UniProtKB: P12107
- Genatlas: COL11A1
- Ensembl: ENSG00000060718
- IUPHAR-DB: -
- Reactome: P12107
- LOVD: COL11A1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
ORPHA:440354 
- Disease-causing germline mutation(s) in Autosomal recessive Stickler syndrome
ORPHA:250984 - Disease-causing germline mutation(s) in Marshall syndrome
ORPHA:560 - Disease-causing germline mutation(s) in Stickler syndrome type 2
ORPHA:90654 - Disease-causing germline mutation(s) (loss of function) in Fibrochondrogenesis
ORPHA:2021
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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