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GENE - TERM ANNOTATION REPORT

RGD ID: 2277
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Casr
Name: calcium-sensing receptor
Acc ID: DOID:9001738
Term: Hypercalciuria
Definition: Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day.
Definition Source(s): MESH:D053565
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 IEP 7205675RGDmRNA, protein:increased expression:kidney (rat) 
Casr ISOCASR (Homo sapiens)7205445RGDDNA:missense mutation: :p.E1011Q (human) 
Casrno_associationISOCASR (Homo sapiens)7205502RGDassociated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) 
CasrsusceptibilityISOCASR (Homo sapiens)7205666RGDassociated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) 
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