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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:0070169
Term: spermatogenic failure 8
Definition: A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20887963 "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)
NR5A1 ISONR5A1 (Homo sapiens)7240710OMIM  
NR5A1 ISONR5A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spermatogenic failure 8PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 PMID:35690514 PMID:36572623
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