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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
- Disease-causing germline mutation(s) in Autosomal recessive Stickler syndrome
- Disease-causing germline mutation(s) in Marshall syndrome
- Disease-causing germline mutation(s) in Stickler syndrome type 2
- Disease-causing germline mutation(s) (loss of function) in Fibrochondrogenesis
: AssessedAdditional information
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