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GENE - TERM ANNOTATION REPORT

RGD ID: 18507921
Species: Chlorocebus sabaeus
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 ISOCASR (Homo sapiens)9068941RGDDNA:missense mutation: :p.E1011Q (human)PMID:20602573 REF_RGD_ID:7205445
CASR ISOCasr (Rattus norvegicus)9068941RGDmRNA, protein:increased expression:kidney (rat)PMID:22137721 REF_RGD_ID:7205675
CASRno_associationISOCASR (Homo sapiens)9068941RGDassociated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)PMID:19887834 REF_RGD_ID:7205502
CASRsusceptibilityISOCASR (Homo sapiens)9068941RGDassociated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)PMID:12239240 REF_RGD_ID:7205666
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