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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
Definition
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Pathways
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PI3K-Akt signaling pathway
Homo sapiens (human)
2 genes
Complement and coagulation cascades
Homo sapiens (human)
2 genes
Removal of aminoterminal propeptides from gamma-carboxylated proteins
species not specified
one gene
PubMed Links
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CYP11B2
The regulation of aldosterone synthase expression
PLAT
Complexes of tissue-type plasminogen activator and its serpin inhibitor plasminogen-activator inhibitor type 1 are internalized by means of the low density lipoprotein receptor-related protein/alpha 2-macroglobulin receptor
Neuroserpin regulates neurite outgrowth in nerve growth factor-treated PC12 cells
Hyperfibrinolysis increases blood-brain barrier permeability by a plasmin- and bradykinin-dependent mechanism
GHR
Evidence for multiple species of Sunda colugo
COL2A1
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia
Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population
TRPV4
From worm to man: three subfamilies of TRP channels
TRPV4
KLK1
A comprehensive nomenclature for serine proteases with homology to tissue kallikreins
F7
A comprehensive model for the humoral coagulation network in humans
Clinical Trials
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