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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8602673
Species: Homo sapiens
RGD Object: Variant
Symbol: CV44360
Name: NM_000486.6(AQP2):c.560G>A (p.Arg187His)
Acc ID: DOID:12387
Term: nephrogenic diabetes insipidus
Definition: A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus "DO" "DO", http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus "DO" "DO", https://medlineplus.gov/ency/article/000511.htm "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)
CV44360 IAGP 8554872ClinVarClinVar Annotator: match by term: Nephrogenic diabetes insipidusPMID:16361827 PMID:18470935 PMID:20403973 PMID:28492532 PMID:7524315
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