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GENE - TERM ANNOTATION REPORT

RGD ID: 732286
Species: Homo sapiens
RGD Object: Gene
Symbol: F13A1
Name: coagulation factor XIII A chain
Acc ID: DOID:2211
Term: factor XIII deficiency
Definition: A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. (DO)
Definition Source(s): http://omim.org/entry/613225 "DO" "DO", http://omim.org/entry/613235 "DO" "DO", https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance "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)
F13A1 IAGP 10450726RGDDNA:nonsense mutation:intron: 
F13A1 IAGP 10450727RGDDNA:mutation:cds:p.R703W(human) 
F13A1 IAGP 10450729RGDDNA:nonsense mutations, missense mutations:cds: 
F13A1 IAGP 10450730RGDDNA:insertion, missense mutation:cds: 
F13A1 IAGP 11041869RGDDNA:polymorphism:intron:IVS1+12C>A(human) 
F13A1 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:1644910
F13A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary factor XIII deficiency diseasePMID:31136071
F13A1 ISSF13a1 (Mus musculus)13592920MouseDOOMIM:613225 | OMIM:613235 
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