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GENE - TERM ANNOTATION REPORT

RGD ID: 1359650
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Xk
Name: X-linked Kx blood group antigen, Kell and VPS13A binding protein
Acc ID: DOID:0112107
Term: McLeod syndrome
Definition: A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/17683354/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8004674/ "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)
Xk ISOXK (Homo sapiens)7240710OMIM  
Xk ISOXK (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Xk ISOXK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: McLeod neuroacanthocytosis syndromePMID:10426139 PMID:11261514 PMID:11703337 PMID:11761473 PMID:11961232 PMID:13860532 PMID:17133513 PMID:17302777 PMID:25741868 PMID:28492532 PMID:30800707 PMID:8004674 PMID:8619554
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