EDA gene homepage

General information
Gene symbol EDA
Gene name ectodysplasin A
Chromosome X
Chromosomal band q12-q13.1
Imprinted Unknown
Genomic reference NG_009809.1
Transcript reference NM_001399.4
Exon/intron information NM_001399.4 exon/intron table
Associated with diseases XHED, agenesis, tooth, selective, X-linked, type 1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Céline Cluzeau
Total number of public variants reported 96
Unique public DNA variants reported 74
Individuals with public variants 76
Hidden variants 1
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 30, 2018
Version EDA:180730

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001399.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/EDA
External URL Orphanet
HGNC 3157
Entrez Gene 1896
PubMed articles EDA
OMIM - Gene 300451
OMIM - Diseases XHED (dysplasia, ectodermal, type 1, hypohidrotic, X-linked (XHED))
agenesis, tooth, selective, X-linked, type 1
GeneCards EDA
GeneTests EDA

Active transcripts




NCBI ID     

NCBI Protein ID     

00000591 X transcript variant 1 NM_001399.4 NP_001390.1 96

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.