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GENE - TERM ANNOTATION REPORT

RGD ID: 628827
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nr1d1
Name: nuclear receptor subfamily 1, group D, member 1
Acc ID: DOID:0070128
Term: congenital nongoitrous hypothyroidism 6
Definition: A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22168587 "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)
Nr1d1 ISONR1D1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6PMID:11075809 PMID:25741868 PMID:34008892
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