ostogenesis imperfecta & Ehlers-Danlos syndrome variant databases
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| Alternative name: | - |
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| Database maintenance site: | University of Leicester Department of Genetics |
| Country/Region: | United Kingdom |
| Database description: | 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) covered: | |
| Tag - Target: | Genome/Gene, Genetic variation, Health/Disease |
| Tag - Information type: | Bibliography/Documents |
| Reference(s) - PubMed ID/DOI: | PubMed ID: DOI: PubMed ID: DOI: |
| Language(s): | English |
| Operational status: | Active |
| Link(s) to Downloadable data: | - |
| Link(s) to Metadata of downloadable data: | - |
| Link(s) to Terms of use: | - |
| Link(s) to "How to use": | - |
| Contact information of database: | - |
| Link(s) to API / SPARQL endpoint | - |
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Link to LSDB Archive:
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Link to MEDALS Database list:
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Link to TogoTV:
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Link to FAIRsharing:
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JFADdb DPV Catalogue of Transmission Genetics in Arabs DBASS Mediterranean Founder Mutation Database BRCA Share OMIM CADgene Digenic diseases database HGVD |
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Record maintainer
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Integbio Database Catalog |
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Record source:
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Date of creation of this record:
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2013-06-17 |
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Last update date of this record:
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2013-06-17 |
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Record license:
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Creative Commons CC0 license |
