The intention of this project is to gather together single gene variant databases involved in clinical bleeding disorders, principally haemophilias A and B and von Willebrand disease, as well as other rarer coagulation factor variants. You may use this portal either to search for reports of known variants, or to submit your own reports for inclusion.

Welcome to the G2P Knowledge Centre. Welcome to the G2P Knowledge Centre - home of the GEN2PHEN project, a holistic approach to genotype-to-phenotype data. Find out more about GEN2PHEN. See a list of GEN2PHEN-supported activities, resources, platforms and initiatives. A simple gene search for G2P data. A listing of locus-specific databases.

Welcome to the wiki of the. You can contact Human Genetics at. Or the maintainer of this wiki at. The Human Genetics bioinformatics team. You can request a user account, your own Trac installation, or anything else by following these instructions. Our project source codes are usually hosted on. Which provides public and private Git repositories. Access to these projects is configured on a per-project basis by the project owner, but there is also. All aspects of Trac have.

0 - Leiden Open Variation Database. Online gene-centered collection and display of DNA variations. Public list of LOVD installations. Our list of Locus Specific Databases. Leiden Open Variation Database 3. See also our full list of LSDBs. Or the list of registered LOVD installations. Search for a variant in any public LOVD. And is actively being improved.

Eg LRG 1, COL1A1, NM 000088. View the list of existing LRGs. And the status of LRGs. You can request one to be created for you. You may submit information about variants to. And obtain an accession number for each variant. The results will be returned to you as outlined in this document. View the list of LRG web services.

All variant information is manually curated before inclusion in the database. Due to the growing body of mutation data for CDKL5. We are in the process of separating these variants from the MECP2. Data and building search engines.

12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015. A global effort, 100 mitochondrial disease experts.

The IARC TP53 Database compiles various types of data and information on human TP53 gene variations related to cancer. Data are compiled from the peer-reviewed literature and from generalist databases. 25 Years of p53 book.

Please be aware that many of the webpages will be undergoing more extensive revision over the next several months. If you experience any difficulties navigating around the new webpages please contact me. And I will aim to promptly rectify the problem.

0 - Leiden Open Variation Database. Online gene-centered collection and display of DNA variations. For all details about LOVD, see our LOVD flyer. Leiden Open Variation Database 3. If you are looking for a specific gene database. Please check the list of gene variant databases in our list of LSDBs. Or in the list of registered LOVD installations. Our LSDB list can also be reached by typing GENESYMBOL. In your browser address bar, like DMD.