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GENE - TERM ANNOTATION REPORT

RGD ID: 628596
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tubb5
Name: tubulin, beta 5 class I
Acc ID: DOID:0112241
Term: multiple benign circumferential skin creases on limbs
Definition: A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26637975/ "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)
Tubb5 ISOTUBB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndromePMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 PMID:29706646 PMID:30738969 PMID:35183200
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