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Welcome!


This Wiki is primarily meant for geneticists, clinicians, and molecular biologists working on Congenital Heart Defects (CHDs).

If you have expertise on CHDs and you want to participate in the annotation of the database, you have to request an account by clicking on the "log in/create account" button at the top right of the page.


If you use information from CHDWiki in a publication, please cite the relevant primary sources, as well as


Barriot R, Breckpot J, Thienpont B, Brohée S, Van Vooren S, Coessens B, Tranchevent LC, Van Loo P, Gewillig M, Devriendt K, Moreau Y.

Collaboratively charting the gene-to-phenotype network of human congenital heart defects.

Genome Med. 2010 Mar 1;2(3):16. (Pubmed)


How to

Overview of CHD data

entity entries
genes 78
CHDs 114
linkage regions 15
translocations 24
Van Karnebeek and Hennekam 1999 regions 46
indel patients 374
indel regions 410
references 64114
Number of entries per entity
  CHD
genes 272
linkage regions 19
translocations 26
Van Karnebeek and Hennekam 1999 85
patients 679
studies (mutation screens) 381
mutations 359
Number of links between CHD and entities

[edit] Getting started with Wiki

Consult the User's Guide for information on using the wiki software.

[edit] In the media

[edit] News

  • September, 25th 2012: Added a CHeartED link on gene pages.
  • June, 13th 2012: Added Semantic Bundle extension.
  • June, 6th 2012: Connected to the cardiogenetics database of Cartagenia.
  • May, 21th 2012: Updated to MediaWiki 1.18.2
  • March, 14th 2010 : A manuscript describing the development and implementation of CHDWiki was published in Genome Medicine.
  • May, 14th 2009 : New tool allowing to visualize protein domains and annotated mutations.
  • March, 4th 2009 : Presentation at the CHeartED Kick-Off meeting
  • November, 6th 2008: Presentation at SAB
  • July, 18th 2008: Updated to MediaWiki 1.12.0 and added FCKeditor (WYSIWYG editor)
  • July, 15th 2008: Creation of the CHDWiki mailing list and the CHDWiki members directory to ease communication and collaboration within the community.
  • June, 26th 2008: New version of the gene network tool released.
  • January, 11th 2008: A first draft of the review was added to the WIKI.
  • August, 15th 2007: A first draft of the prioritization feature has been integrated. For now, it only accepts copy/paste of Ensembl gene IDs for training and candidate genes. The results are presented more or less in the same way as with the java client (list of ranks per model and sprint plot). Additionally, a network view is available that shows training genes, candidate genes and interacting genes. Currently, the genes interaction are taken from IntAct. We need to build a default training set (for each CHD) and select the default models to be used.
  • May, 5th 2007: New feature: view of the genes and bands related to CHD on chromosomes.
  • April, 3rd 2007: The final version of Jeroen's gene <math>\leftrightarrow</math> phenotype associations has been uploaded in the wiki. Note also the jump box on the left below the search box: it allows to jump conveniently to a gene or phenotype page through an autofill feature.
  • February, 1st 2007: Now gene pages have links to Decipher pages (if any).
  • January, 23rd 2007: new function to include CGHGate case reports involving a given gene: <inout>CHDFORMS:CGHGateCaseReportsForGene|CGHGateCaseReportsForGene|TBX1</inout> see the result here
  • January, 22nd 2007: AEPC Nomenclature uploaded to this wiki. Pages have been generated for each defect and gene associated in Jeroen manually curated data. Special wiki functions implemented to obtain
    • genes associated to an EPCC: <inout>genesForPhenotype|06.01.01</inout> see the result here
    • EPCC associated to a gene: <inout>phenotypesForGene|TBX1</inout> see the result here