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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:3263
Term: piebaldism
Definition: An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32975012/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15485525 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1717985 "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)
Kit ISOKIT (Homo sapiens)1600045RGD  
Kit ISOKIT (Homo sapiens)12910729RGDDNA:missense, frameshift mutations:cds: 
Kit ISOKIT (Homo sapiens)7240710OMIM  
Kit ISOKIT (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Kit ISOKIT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressivePMID:10554798 PMID:11074500 PMID:11174389 PMID:11380399 PMID:1370874 PMID:1376329 PMID:1384325 PMID:15194144 PMID:16081693 PMID:16199547 PMID:16307017 PMID:17065430 PMID:1717985 PMID:1720553 PMID:17525721 PMID:20140688 PMID:20205869 PMID:20339585 PMID:20890793 PMID:22670867 PMID:22703879 PMID:23020152 PMID:23593539 PMID:24205792 PMID:24627108 PMID:24728327 PMID:25079768 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:32220041 PMID:338655 PMID:34008892 PMID:7529964 PMID:9450866 PMID:9699740
Kit ISSKit (Mus musculus)13592920MouseDOOMIM:172800 
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