Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:0080939
Term: hereditary angioedema type I
Definition: A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11161971/ "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: ANGIOEDEMA, HEREDITARY, TYPE IPMID: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
Go Back to source page   Continue to Ontology report