The 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 STHAGX1, XHED
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Céline Cluzeau
Total number of public variants reported 375
Unique public DNA variants reported 192
Individuals with public variants 332
Hidden variants 4
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 April 16, 2023
Version EDA:230416

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
HGNC 3157
Entrez Gene 1896
PubMed articles EDA
OMIM - Gene 300451
OMIM - Diseases STHAGX1 (agenesis, tooth, selective, X-linked, type 1 (STHAGX1))
XHED (dysplasia, ectodermal, type 1, hypohidrotic, X-linked (XHED))
GeneCards EDA
GeneTests EDA
Orphanet EDA

Active transcripts




NCBI ID     

NCBI Protein ID     

00000591 X transcript variant 1 NM_001399.4 NP_001390.1 375

Copyright & disclaimer
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