Entity Details

Primary name EDARADD
Entity type gene
Source Source Link

Details

PrimaryID128178
RefseqGeneNG_011566
SymbolEDARADD
NameEDAR associated death domain
Chromosome1
Location1q42.3-q43
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEDAD_HUMAN

GO terms

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GOName
GO:0005829 cytosol
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:1901224 positive regulation of NIK/NF-kappaB signaling

Diseases

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Disease IDSourceNameDescription
614941 OMIMEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B)A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. The disease is caused by variants affecting the gene represented in this entry.
614940 OMIMEctodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A)A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. The disease is caused by variants affecting the gene represented in this entry.

Interactions

14 interactions