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osteoarthritis
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Cancer Gene Census
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COL2A1
Somatic tumors
chondrosarcoma, enchondroma
Tumor types germline
Cancer Syndrom
Translocation partner
Name
collagen, type II, alpha 1
Chromosome banding
12q13.11
Cancer molecular gen.
Rec
Mutation type
F, Mis, N, T
Other syndrome disease
Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others
PubMed Links
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COL2A1
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix
Clinical and Molecular genetics of Stickler syndrome
ACAN
Roles of aggrecan, a large chondroitin sulfate proteoglycan, in cartilage structure and function
The interglobular domain of cartilage aggrecan is cleaved by PUMP, gelatinases, and cathepsin B
The structure of aggrecan fragments in human synovial fluid. Evidence for the involvement in osteoarthritis of a novel proteinase which cleaves the Glu 373-Ala 374 bond of the interglobular domain
MATN3
Matrilin-3 from chicken cartilage
ASPN
Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese
GDF5
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
Definition
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