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GENE - TERM ANNOTATION REPORT

RGD ID: 10291
Species: Homo sapiens
RGD Object: Gene
Symbol: CASR
Name: calcium sensing receptor
Acc ID: HP:0011767
Term: Abnormality of the parathyroid physiology
Definition: A functional abnormality of the parathyroid gland.
Definition Source(s): https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199
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)
CASRseverityIAGP 7205505RGDassociated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E 
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