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GENE - TERM ANNOTATION REPORT

CRRD ID: 727894
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Krt5
Name: keratin 5
Acc ID: DOID:0111346
Term: epidermolysis bullosa simplex with mottled pigmentation
Definition: An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/421361, https://www.ncbi.nlm.nih.gov/pubmed/8799157
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13438727240710OMIM  
 ISORGD:13438728554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation

PMID:10494094, PMID:11167681, PMID:20923750, PMID:2476664, PMID:8799157, PMID:9129237
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