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GENE - TERM ANNOTATION REPORT

RGD ID: 1590901
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Krt16
Name: keratin 16
Acc ID: DOID:0111709
Term: focal nonepidermolytic palmoplantar keratoderma 1
Definition: A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8595410 "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)
Krt16 ISOKRT16 (Homo sapiens)7240710OMIM  
Krt16 ISOKRT16 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Krt16 ISOKRT16 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1PMID:16250206 PMID:22668561 PMID:24491404 PMID:25741868 PMID:28492532 PMID:31823354 PMID:8595410
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