J-GLOBAL ID:201410008662907123   Research Resource code:NBDC00353 Update date:Jun. 17, 2013

ostogenesis imperfecta & Ehlers-Danlos syndrome variant databases

ostogenesis imperfecta & Ehlers-Danlos syndrome variant databases
Owning Organization:
  • University of Leicester Department of Genetics
Resource classification: Database
Tag (subject)  (3): Genome/Gene ,  Genetic variation ,  Health/Disease
Tag (data type)  (1): Bibliography/Documents
Species (1): Homo sapiens (NCBI Taxonomy ID: 9606)
This database contains all available information on variants in the collagen gene, that may lead to the development of the genetic disorder osteogenesis imperfecta.
The genes in which these variations were found to appear are COL1A1, COL1A2, BMP1, CRTAP, FKBP10, IFITM5, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B and WNT1.
When variations take place in the type III collagen gene, COL3A1, Ehlers-Danlos syndrome type IV is usually the outcome.
Classical Ehlers-Danlos syndrome is most often caused by variations in the type V collagen genes, COL5A1 and COL5A2 .
Copies of the two papers that describe the database are available for download in Adobe Acrobat format.
Source: NBDC
Record maintainer: Integbio Database Catalog
Record license: Creative Commons CC0 license

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