xeroderma pigmentosum group E
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
xeroderma pigmentosum variant |
| gptkbp:affects |
nucleotide excision repair pathway
|
| gptkbp:associatedWith |
DNA repair defect
|
| gptkbp:firstDescribed |
1994
|
| https://www.w3.org/2000/01/rdf-schema#label |
xeroderma pigmentosum group E
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
DDB2 gene
|
| gptkbp:OMIM |
278750
|
| gptkbp:symptom |
photosensitivity
increased risk of skin cancer |
| gptkbp:bfsParent |
gptkb:DDB2
|
| gptkbp:bfsLayer |
7
|