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GENE - TERM ANNOTATION REPORT

RGD ID: 14268903
Species: Sus scrofa
RGD Object: Gene
Symbol: NR5A1
Name: nuclear receptor subfamily 5 group A member 1
Acc ID: DOID:9003766
Term: 46, XY Disorders of Sex Development
Definition: Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
Definition Source(s): MESH:D058490
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)
NR5A1 ISONR5A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 46,XY disorder of sex developmentPMID:17694559 PMID:20887963 PMID:25741868 PMID:27899157 PMID:28492532
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