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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:0080652
Term: calcium oxalate nephrolithiasis
Definition: A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16570061 "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)
Casr ISOCASR (Homo sapiens)7205445RGDDNA:missense mutations:cds:p.A986S, p.E1011Q (human) 
Casr ISOCASR (Homo sapiens)7205446RGDDNA:snp:intron:IVS4+11988A>G rs17251221 (human) 
Casr ISOCASR (Homo sapiens)13464331RGDDNA:missense mutation:cds:p.R990G (rs1042636)(human) 
CasrsusceptibilityISOCASR (Homo sapiens)7205447RGDassociated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human) 
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