Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:desmoglein_1
cadherin family member |
| gptkbp:associatedWith |
SAM syndrome
pemphigus foliaceus striate palmoplantar keratoderma |
| gptkbp:component |
gptkb:desmosome
|
| gptkbp:encodes |
desmoglein-1
|
| gptkbp:Entrez_Gene_ID |
1828
ENSG00000161116 |
| gptkbp:expressedIn |
epidermis
|
| gptkbp:function |
cell adhesion
|
| gptkbp:HGNC_ID |
HGNC:3046
|
| https://www.w3.org/2000/01/rdf-schema#label |
DSG1
|
| gptkbp:locatedOnChromosome |
gptkb:18q12.1
|
| gptkbp:memberOf |
gptkb:cadherin_superfamily
|
| gptkbp:mutationAssociatedWith |
skin blistering
|
| gptkbp:OMIM |
125670
|
| gptkbp:orthologInMouse |
Dsg1
|
| gptkbp:product |
transmembrane glycoprotein
|
| gptkbp:UniProtID |
Q02413
|
| gptkbp:bfsParent |
gptkb:cadherins
|
| gptkbp:bfsLayer |
7
|