The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is ... See more...

Aliases for EDA Gene

Aliases for EDA Gene

  • Ectodysplasin A 2 3 5
  • Ectodysplasin-A 3 4
  • Oligodontia 1 2 3
  • ED1-A1 2 3
  • ED1-A2 2 3
  • EDA-A1 2 3
  • EDA-A2 2 3
  • XLHED 2 3
  • EDA1 2 3
  • EDA2 3 4
  • XHED 2 3
  • ED1 3 4
  • HED 2 3
  • X-Linked Anhidroitic Ectodermal Dysplasia Protein 3
  • Ectodermal Dysplasia 1, Anhidrotic 2
  • Tumor Necrosis Factor Ligand 7C 3
  • Ectodermal Dysplasia Protein 4
  • EDA Protein 4
  • STHAGX1 3
  • TNLG7C 3
  • ECTD1 3
  • HED1 3
  • ODT1 3
  • EDA 5

External Ids for EDA Gene

Previous HGNC Symbols for EDA Gene

  • ED1
  • EDA2
  • ODT1

Previous GeneCards Identifiers for EDA Gene

  • GC0XP068618
  • GC0XP068752
  • GC0XP062655

Summaries for EDA Gene

Entrez Gene Summary for EDA Gene

  • The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for EDA Gene

EDA (Ectodysplasin A) is a Protein Coding gene. Diseases associated with EDA include Ectodermal Dysplasia 1, Hypohidrotic, X-Linked and Tooth Agenesis, Selective, X-Linked, 1. Among its related pathways are Innate Immune System and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and tumor necrosis factor receptor binding. An important paralog of this gene is COL5A1.

UniProtKB/Swiss-Prot Summary for EDA Gene

  • Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).
  • [Isoform 1]: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.
  • [Isoform 3]: Binds only to the receptor EDA2R.

Gene Wiki entry for EDA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EDA Gene

Genomics for EDA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EDA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ069613 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 264.9 +0.3 322 5.6 CEBPA CTCF ZIC2 FOXA2 VEZF1 MAFF SMAD4 SAP130 ZNF341 SMC3 EDA EFNB1 HSALNG0138397 AWAT2
GH0XJ069551 Enhancer 1 Ensembl ENCODE 7.6 -61.1 -61148 7.3 CEBPA IKZF1 ELF1 KDM6A CEBPB FOXA2 SMAD4 SAP130 RXRA ETV4 EDA EFNB1 STARD8 ENSG00000228160 FAM155B
GH0XJ069632 Enhancer 0.2 FANTOM5 2.4 +16.1 16073 0.3 EDA PJA1 HSALNG0138397 piR-38344-147 AWAT2
GH0XJ069503 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 0.1 -111.4 -111417 2.7 ZBTB10 CTCF ELF1 HOMEZ SIN3A REST SAP130 KLF7 ZNF341 GABPB1 FAM155B HSALNG0138393 ENSG00000228160 EDA
GH0XJ069602 Enhancer 0.6 Ensembl ENCODE 0.4 -11.6 -11599 3.1 SIX4 NR2F6 HLF NR2F1 EFNB1 EDA ENSG00000228160 FAM155B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDA

Top Transcription factor binding sites by QIAGEN in the EDA gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for EDA Gene

Latest Assembly
chrX:69,616,067-70,039,472
(GRCh38/hg38)
Size:
423,406 bases
Orientation:
Plus strand

Previous Assembly
chrX:68,835,957-69,259,322
(GRCh37/hg19 by Entrez Gene)
Size:
423,366 bases
Orientation:
Plus strand

chrX:68,835,911-69,259,319
(GRCh37/hg19 by Ensembl)
Size:
423,409 bases
Orientation:
Plus strand

Genomic View for EDA Gene

Genes around EDA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDA Gene

Proteins for EDA Gene

  • Protein details for EDA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92838-EDA_HUMAN
    Recommended name:
    Ectodysplasin-A
    Protein Accession:
    Q92838
    Secondary Accessions:
    • A0AUZ2
    • A2A337
    • B7ZLU2
    • B7ZLU4
    • O75910
    • Q5JS00
    • Q5JUM7
    • Q9UP77
    • Q9Y6L0
    • Q9Y6L1
    • Q9Y6L2
    • Q9Y6L3
    • Q9Y6L4

    Protein attributes for EDA Gene

    Size:
    391 amino acids
    Molecular mass:
    41294 Da
    Quaternary structure:
    • Homotrimer. The homotrimers may then dimerize and form higher-order oligomers.
    SequenceCaution:
    • Sequence=AAC77372.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for EDA Gene

    Alternative splice isoforms for EDA Gene

neXtProt entry for EDA Gene

Post-translational modifications for EDA Gene

No data available for DME Specific Peptides for EDA Gene

Domains & Families for EDA Gene

Gene Families for EDA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for EDA Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Tumor Necrosis Factor
ProtoNet:

Suggested Antigen Peptide Sequences for EDA Gene

GenScript: Design optimal peptide antigens:
  • Ectodermal dysplasia protein (EDA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92838

UniProtKB/Swiss-Prot:

EDA_HUMAN :
  • Belongs to the tumor necrosis factor family.
Family:
  • Belongs to the tumor necrosis factor family.
genes like me logo Genes that share domains with EDA: view

Function for EDA Gene

Molecular function for EDA Gene

UniProtKB/Swiss-Prot Function:
Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.
UniProtKB/Swiss-Prot Function:
[Isoform 3]: Binds only to the receptor EDA2R.

LifeMap Function Summary for EDA Gene

During embryonic development, EDA as signaling molecule is secreted from the following cells

Phenotypes From GWAS Catalog for EDA Gene

Gene Ontology (GO) - Molecular Function for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IDA 11039935
GO:0005123 death receptor binding IBA 21873635
GO:0005164 tumor necrosis factor receptor binding IEA --
GO:0005515 protein binding IEA,IPI 11039935
GO:0038177 death receptor agonist activity IBA 21873635
genes like me logo Genes that share ontologies with EDA: view
genes like me logo Genes that share phenotypes with EDA: view

Human Phenotype Ontology for EDA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for EDA Gene

miRTarBase miRNAs that target EDA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDA

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EDA Gene

Localization for EDA Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDA Gene

Cell membrane. Single-pass type II membrane protein.
[Ectodysplasin-A, secreted form]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDA gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytoskeleton 4
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Lipid droplets (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005811 lipid droplet IDA --
genes like me logo Genes that share ontologies with EDA: view

Pathways & Interactions for EDA Gene

genes like me logo Genes that share pathways with EDA: view

Pathways by source for EDA Gene

SIGNOR curated interactions for EDA Gene

Activates:

Gene Ontology (GO) - Biological Process for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006955 immune response IEA --
GO:0007160 cell-matrix adhesion IEA --
GO:0007275 multicellular organism development IEA --
GO:0010467 gene expression IEA --
genes like me logo Genes that share ontologies with EDA: view

Drugs & Compounds for EDA Gene

(1) Drugs for EDA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EDA: view

Transcripts for EDA Gene

mRNA/cDNA for EDA Gene

7 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDA

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for EDA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1: -
SP2: - -
SP3: - -

Relevant External Links for EDA Gene

GeneLoc Exon Structure for
EDA

Expression for EDA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EDA Gene

mRNA differential expression in normal tissues according to GTEx for EDA Gene

This gene is overexpressed in Heart - Atrial Appendage (x4.0).

Protein differential expression in normal tissues from HIPED for EDA Gene

This gene is overexpressed in Breast (53.7) and Heart (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EDA Gene



Protein tissue co-expression partners for EDA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDA

SOURCE GeneReport for Unigene cluster for EDA Gene:

Hs.105407

mRNA Expression by UniProt/SwissProt for EDA Gene:

Q92838-EDA_HUMAN
Tissue specificity: Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.

Evidence on tissue expression from TISSUES for EDA Gene

  • Muscle(2.5)
  • Heart(2.3)
  • Skin(2.2)
  • Lung(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with EDA: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for EDA Gene

Orthologs for EDA Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EDA 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EDA 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia EDA 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Eda 31
  • 94 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EDA 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EDA 31
  • 89 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii eda 31
  • 53 (a)
OneToOne
Species where no ortholog for EDA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EDA Gene

ENSEMBL:
Gene Tree for EDA (if available)
TreeFam:
Gene Tree for EDA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EDA: view image

Paralogs for EDA Gene

Variants for EDA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDA Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
839246 Likely Pathogenic: Hypohidrotic X-linked ectodermal dysplasia 70,035,549(+) C/G
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)
MISSENSE
847256 Pathogenic: Hypohidrotic X-linked ectodermal dysplasia 70,027,997(+) CCTGGTCCTCAAGGAC
NM_001399.5(EDA):c.673_706+2del
SPLICE_DONOR
848231 Pathogenic: Hypohidrotic X-linked ectodermal dysplasia 70,027,915(+) AC/A
NM_001399.5(EDA):c.589del (p.Gln197fs)
FRAMESHIFT
849399 Likely Pathogenic: Hypohidrotic X-linked ectodermal dysplasia 70,027,938(+) C/T
NM_001399.5(EDA):c.608C>T (p.Pro203Leu)
MISSENSE
853993 Uncertain Significance: Hypohidrotic X-linked ectodermal dysplasia 69,616,709(+) G/C
NM_001399.5(EDA):c.396+5G>C
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EDA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EDA Gene

Variant ID Type Subtype PubMed ID
dgv4254n106 CNV duplication 24896259
esv1584074 OTHER inversion 17803354
esv2658208 CNV deletion 23128226
esv2675436 CNV deletion 23128226
esv33223 CNV loss 17666407
esv33259 CNV gain 17666407
esv3558946 CNV deletion 23714750
esv3574028 CNV loss 25503493
nsv1078115 CNV duplication 25765185
nsv1128538 CNV deletion 24896259
nsv1146980 CNV duplication 26484159
nsv1149363 CNV duplication 26484159
nsv1151315 CNV duplication 26484159
nsv478646 CNV novel sequence insertion 20440878
nsv520990 CNV gain 19592680
nsv521471 CNV loss 19592680
nsv524859 CNV gain 19592680
nsv526923 CNV gain 19592680
nsv6946 CNV insertion 18451855
nsv6947 CNV deletion 18451855
nsv6948 CNV insertion 18451855
nsv6949 CNV insertion 18451855

Variation tolerance for EDA Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDA Gene

Human Gene Mutation Database (HGMD)
EDA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDA Gene

Disorders for EDA Gene

MalaCards: The human disease database

(21) MalaCards diseases for EDA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search EDA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDA_HUMAN
  • Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. {ECO:0000269 PubMed:10469321, ECO:0000269 PubMed:10951256, ECO:0000269 PubMed:11279189, ECO:0000269 PubMed:11295832, ECO:0000269 PubMed:11309369, ECO:0000269 PubMed:11343303, ECO:0000269 PubMed:11378824, ECO:0000269 PubMed:11416205, ECO:0000269 PubMed:12225002, ECO:0000269 PubMed:12932274, ECO:0000269 PubMed:17256800, ECO:0000269 PubMed:18231121, ECO:0000269 PubMed:19127222, ECO:0000269 PubMed:19438931, ECO:0000269 PubMed:20486090, ECO:0000269 PubMed:20979233, ECO:0000269 PubMed:22008666, ECO:0000269 PubMed:22350046, ECO:0000269 PubMed:24724966, ECO:0000269 PubMed:27144394, ECO:0000269 PubMed:27657131, ECO:0000269 PubMed:8696334, ECO:0000269 PubMed:9507389, ECO:0000269 PubMed:9630076, ECO:0000269 PubMed:9683615, ECO:0000269 PubMed:9736768}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269 PubMed:16583127, ECO:0000269 PubMed:18657636, ECO:0000269 PubMed:19278982, ECO:0000269 PubMed:23603338, ECO:0000269 PubMed:23625373, ECO:0000269 PubMed:24487376, ECO:0000269 PubMed:27144394}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for EDA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EDA: view

No data available for Genatlas for EDA Gene

Publications for EDA Gene

  1. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. (PMID: 16583127) Tao R … He L (Journal of human genetics 2006) 2 3 4 23 74
  2. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. (PMID: 9507389) Ferguson BM … Zonana J (Journal of medical genetics 1998) 3 4 23 74
  3. Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems. (PMID: 20486090) Khabour OF … Owais AI (Genetics and molecular research : GMR 2010) 3 4 23
  4. Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. (PMID: 19127222) Gunadi … Nishio H (Pediatric research 2009) 3 4 23
  5. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. (PMID: 19438931) Shimomura Y … Christiano AM (Clinical genetics 2009) 3 4 23

Products for EDA Gene

Sources for EDA Gene