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GENE - TERM ANNOTATION REPORT

RGD ID: 12653575
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Slc34a1
Name: solute carrier family 34 member 1
Acc ID: DOID:2231
Term: factor XII deficiency
Definition: A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. (DO)
Definition Source(s): http://omim.org/entry/234000 "DO" "DO", https://rarediseases.org/rare-diseases/factor-xii-deficiency/ "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)
Slc34a1 ISOSLC34A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency diseasePMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:22920075 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:27130860 PMID:28492532 PMID:30943683
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