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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: DOID:0111387
Term: familial isolated hypoparathyroidism
Definition: A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11602629 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2212001 "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 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:20119591
CASR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:11807402 PMID:17698911 PMID:21521328 PMID:22192860 PMID:22422767 PMID:25741868 PMID:26467025 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:16497624 PMID:17320849 PMID:17698911 PMID:18680227 PMID:20164288 PMID:25741868 PMID:26467025 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:15598778 PMID:1706284 PMID:25741868 PMID:26467025 PMID:28492532
CASR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:25741868 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:20164288 PMID:22192860 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30895164
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:17320849 PMID:18756473 PMID:20164288 PMID:22192860 PMID:26166472 PMID:26467025 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:25741868 PMID:26467025 PMID:27157104 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:22192860 PMID:25741868 PMID:28492532 PMID:29846619
CASR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidism 
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:24133354 PMID:25741868 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:25741868
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:25292184 PMID:26467025 PMID:26646938 PMID:28492532
CASR IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:26467025 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:25741868 PMID:26467025 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:21414629 PMID:25741868 PMID:27957351 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:15879434 PMID:25741868 PMID:28492532
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:10023897 PMID:10217111 PMID:10912749 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11733622 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12239240 PMID:12574201 PMID:14508624 PMID:14997007 PMID:15531522 PMID:15864123 PMID:16497624 PMID:17018660 PMID:17117288 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:19694204 PMID:20602573 PMID:22024717 PMID:24033266 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26467025 PMID:28492532 PMID:8636323
CASR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:11807402 PMID:17320849 PMID:21645025 PMID:25741868 PMID:28492532
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