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otospondylomegaepiphyseal dysplasia
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ECM-receptor interaction
Homo sapiens (human)
2 genes
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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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COL11A2
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
Genetic mapping of ossification of the posterior longitudinal ligament of the spine
COL2A1
Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
Definition
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