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bone mineral density
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PLS3
Human plastin genes. Comparative gene structure, chromosome location, and differential expression in normal and neoplastic cells
LRP5
The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment
Inactivation of Lrp5 in osteocytes reduces young's modulus and responsiveness to the mechanical loading
Regulation of Wnt/����-catenin signaling within and from osteocytes
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease
Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion
COL1A1
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
Regulation of type I collagen genes expression.
UGT2B17
Isolation and characterization of a novel cDNA encoding a human UDP-glucuronosyltransferase active on C19 steroids
LGR4
Chromosomal localization of GPR48, a novel glycoprotein hormone receptor like GPCR, in human and mouse with radiation hybrid and interspecific backcross mapping
Clinical Trials
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BBD Longitudinal Study of Osteogenesis Imperfecta
Definition
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Cancer Gene Census
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COL1A1
Somatic tumors
DFSP, aneurysmal bone cyst
Tumor types germline
Cancer Syndrom
Translocation partner
PDGFB, USP6
Name
collagen, type I, alpha 1
Chromosome banding
17q21.31-q22
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Osteogenesis imperfecta
Pathways
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Pentose and glucuronate interconversions
Homo sapiens (human)
one gene