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GENE - TERM ANNOTATION REPORT

RGD ID: 628649
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mc2r
Name: melanocortin 2 receptor
Acc ID: DOID:0080621
Term: glucocorticoid deficiency 1
Definition: A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19500760 "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)
Mc2r ISOMC2R (Homo sapiens)7240710OMIM  
Mc2r ISOMC2R (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Mc2r ISOMC2R (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1PMID:10443676 PMID:12213892 PMID:14960026 PMID:16271481 PMID:17128565 PMID:17223989 PMID:18059087 PMID:18407210 PMID:18492762 PMID:18504396 PMID:18840636 PMID:19170705 PMID:19558534 PMID:21932602 PMID:25741868 PMID:26650942 PMID:28492532 PMID:34258490 PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 PMID:8636348 PMID:9758716
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