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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:0011280
Term: Abnormality of urine calcium concentration
Definition: An abnormality of calcium concentration in the urine.
Definition Source(s): 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)
CASR IAGP 7205440RGDDNA:missense mutations:cds:multiple 
CASR IAGP 7205499RGDDNA:missense mutation:cds:p.A213E  
CASRno_associationIAGP 7205502RGDassociated with Nephrolithiasis, Calcium Oxalate;DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q 
CASRsusceptibilityIAGP 7205666RGDassociated with Nephrolithiasis, Calcium Oxalate;DNA:missense mutation:cds:p.R990G 
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