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GENE - TERM ANNOTATION REPORT

RGD ID: 1316672
Species: Mus musculus
RGD Object: Gene
Symbol: Krt14
Name: keratin 14
Acc ID: DOID:0080511
Term: epidermolysis bullosa simplex generalized type
Definition: An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Krt14 ISOKRT14 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBSPMID:10583131 PMID:11331879 PMID:11710919 PMID:11990248 PMID:16098032 PMID:1703046 PMID:1717157 PMID:1720261 PMID:20151404 PMID:20301543 PMID:21623745 PMID:2365356 PMID:25326635 PMID:25741868 PMID:26743602 PMID:28492532 PMID:31957133 PMID:7682883
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