Medical Knowledge Cockpit
vitreoretinopathy
Add Custom Markers
PubMed Links
No results
An error occurred
Get all information!
LRP5
Cloning of a novel member of the low-density lipoprotein receptor family
Molecular cloning of mouse Lrp7(Lr3) cDNA and chromosomal mapping of orthologous genes in mouse and human
Where Wnts went: the exploding field of Lrp5 and Lrp6 signaling in bone
Sp1 and KLF15 regulate basal transcription of the human LRP5 gene
Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation
Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum
TSPAN12
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling
FZD4
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy
Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells
NDP
A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein
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
CAPN5
Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily
Cancer Gene Census
No results
An error occurred
Get all information!
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
Clinical Trials
No results
An error occurred
Get all information!
Please search a gene to see results here
Definition
No results
An error occurred
Get all information!
Please search a gene to see results here
Pathways
No results
An error occurred
Get all information!
Ã
Modal title
Basal cell carcinoma
Homo sapiens (human)
one gene