Identity
HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
ECTD1,ED1,ED1-A1,ED1-A2,EDA-A1,EDA-A2,EDA1,EDA2,HED,HED1,ODT1,STHAGX1,TNLG7C,XHED,XLHED
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1896
MIM: 300451
HGNC: 3157
Ensembl: ENSG00000158813
Variants:
dbSNP: 1896
ClinVar: 1896
TCGA: ENSG00000158813
COSMIC: EDA
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36029158 | 2023 | Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree. | 0 |
| 36448232 | 2023 | A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability. | 3 |
| 36765055 | 2023 | Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants. | 2 |
| 37001412 | 2023 | A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia. | 0 |
| 37091044 | 2023 | Association between Circulating Ectodysplasin A and Diabetic Kidney Disease. | 0 |
| 36029158 | 2023 | Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree. | 0 |
| 36448232 | 2023 | A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability. | 3 |
| 36765055 | 2023 | Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants. | 2 |
| 37001412 | 2023 | A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia. | 0 |
| 37091044 | 2023 | Association between Circulating Ectodysplasin A and Diabetic Kidney Disease. | 0 |
| 34817077 | 2022 | Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach. | 2 |
| 34863015 | 2022 | Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India. | 1 |
| 35546689 | 2022 | Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis. | 2 |
| 35964664 | 2022 | Ectodysplasin-A mRNA in exosomes released from activated hepatic stellate cells stimulates macrophage response. | 3 |
| 34817077 | 2022 | Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach. | 2 |
Citation
Dessen P
EDA (ectodysplasin A)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/40402/eda
