Database Record
ostogenesis imperfecta & Ehlers-Danlos syndrome variant databases
| IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. | NBDC00353 | ||||||||
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| Database nameName of the database | ostogenesis imperfecta & Ehlers-Danlos syndrome variant databases | ||||||||
| Alternative nameAlternative name of the database | ― | ||||||||
| URLURL of the database | http://www.le.ac.uk/genetics/collagen | ||||||||
| Database maintenance siteSite maintaining the database | University of Leicester Department of Genetics | ||||||||
| Country/RegionCountry or region name where the database maintenance site is located | United Kingdom | ||||||||
| Database descriptionDatabase descirption | 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. | ||||||||
| Organism(s) coveredNCBI Taxonomy names and IDs covered by the database | Homo sapiens (9606) | ||||||||
| Tag - TargetTag to indicate targets for this database such as genome and protein |
Genome/Gene
cDNA/EST
Genetic variation
Epigenetics
DNA
RNA
Protein
Carbohydrate
Lipid
Metabolite
Chemical compound
Drug
Cell/Organelle
Organism
Health/Disease
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| Tag - Information typeTag to indicate information types for this database such as sequence and structure |
Phenotype
Bioresource
Method
Ontology/Terminology/Nomenclature
Environment
Sequence
3D structure
Chemical structure
Expression
Localization
Geographic Distribution
Interaction/Pathway
Taxonomy
Classification
Image/Movie
Bibliography/Documents
Portal
Repository
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| Reference(s) - PubMed ID/DOIPubMed IDs/DOI for papers related to the database |
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| Language(s)Languages in which the contents of the database are displayed | English | ||||||||
| Operational statusOperational status for the database | Active | ||||||||
| Link(s) to Downloadable dataLinks to downloadable data | ― | ||||||||
| Link(s) to MetaData of downloadable dataLinks to metadata of downloadable data | ― | ||||||||
| Link(s) to Terms of useLinks to terms of use of downloadable data | ― | ||||||||
| Link(s) to "How to use" | ― | ||||||||
| Contact information of database | ― | ||||||||
| Link(s) to API / SPARQL endpoint | ― | ||||||||
| Link to LSDB ArchiveLink to LSDB Archive | ― | ||||||||
| Link to MEDALS Database listLink to MEDALS Database list | ― | ||||||||
| Link to TogoTVLink to TogoTV | ― | ||||||||
| Link to FAIRsharingLink to FAIRsharing | ― | ||||||||
| Similar databasesDatabases that are similar to this database. | |||||||||
| Record maintainerRecord maintainer | Integbio Database Catalog | ||||||||
| Record sourceOrganization that originally created the record |
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| Date of creation of this recordDate of creation of this English record | 2013-06-17 | ||||||||
| Last update date of this recordLast update date of this English record | 2013-06-17 | ||||||||
| Record license | Creative Commons CC0 license |