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GENE - TERM ANNOTATION REPORT

RGD ID: 733686
Species: Homo sapiens
RGD Object: Gene
Symbol: SLC34A1
Name: solute carrier family 34 member 1
Acc ID: DOID:0080940
Term: hereditary angioedema type III
Definition: A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/16638441/ "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 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary angioedema, type IIIPMID:24033266 PMID:25741868 PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary angioedema, type IIIPMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary angioedema, type III 
SLC34A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary angioedema, type IIIPMID:25741868 PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary angioedema, type IIIPMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:22920075 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:27130860 PMID:28492532
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