Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
hypohidrotic ectodermal dysplasia
|
gptkbp:encodes |
EDAR-associated death domain protein
|
gptkbp:Entrez_Gene_ID |
15478
|
gptkbp:expressedIn |
gptkb:skin
sweat glands hair follicles |
gptkbp:fullName |
Ectodysplasin A receptor-associated adapter protein
|
gptkbp:function |
adaptor protein in TNF receptor signaling pathway
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:14625
|
https://www.w3.org/2000/01/rdf-schema#label |
EDARADD
|
gptkbp:interactsWith |
gptkb:EDAR
gptkb:TRAF6 |
gptkbp:involvedIn |
ectodermal development
|
gptkbp:locatedOnChromosome |
chromosome 1
1q42-q43 |
gptkbp:mutationAssociatedWith |
abnormal hair, teeth, and sweat gland development
|
gptkbp:OMIM |
606603
|
gptkbp:orthologInMouse |
Edaradd
|
gptkbp:UniProtID |
Q96BI3
|
gptkbp:bfsParent |
gptkb:EDAR
|
gptkbp:bfsLayer |
6
|