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GENE - TERM ANNOTATION REPORT

RGD ID: 620568
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kit
Name: KIT proto-oncogene receptor tyrosine kinase
Acc ID: DOID:350
Term: mastocytosis
Definition: A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA).
Definition Source(s): MESH:D008415
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)
Kit ISOKIT (Homo sapiens)1600046RGD  
Kit ISOKIT (Homo sapiens)12910724RGDassociated with Hematologic Diseases;mRNA:increased expression:peripheral blood mononuclear cell: 
Kit ISOKIT (Homo sapiens)7240710OMIM  
Kit ISOKIT (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Kit ISOKIT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: MastocytosisPMID:10554798 PMID:11380399 PMID:15790786 PMID:16081693 PMID:16307017 PMID:17065430 PMID:17525721 PMID:20140688 PMID:20205869 PMID:20339585 PMID:20890793 PMID:22703879 PMID:23020152 PMID:23593539 PMID:24205792 PMID:24728327 PMID:25079768 PMID:25157968 PMID:25176472 PMID:25637381 PMID:25741868 PMID:25975190 PMID:26158763 PMID:27023146 PMID:27214377 PMID:27258816 PMID:28492532 PMID:28724667 PMID:30019023 PMID:31350202 PMID:31775759 PMID:7529964 PMID:8589724
Kit ISSKit (Mus musculus)13592920MouseDOOMIM:154800 
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