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GENE - TERM ANNOTATION REPORT

RGD ID: 68493
Species: Homo sapiens
RGD Object: Gene
Symbol: NR5A1
Name: nuclear receptor subfamily 5 group A member 1
Acc ID: DOID:0080864
Term: primary ovarian insufficiency 7
Definition: A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26523528/ "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 IAGP 7240710OMIM  
NR5A1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
NR5A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Premature ovarian failure 7PMID:25741868 PMID:34008892
NR5A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Premature ovarian failure 7PMID:17940071 PMID:25741868 PMID:28492532 PMID:30067310 PMID:32655042 PMID:36572623
NR5A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Premature ovarian failure 7PMID:19246354
NR5A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATEDPMID:11038323
NR5A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATEDPMID:11932325 PMID:26523528 PMID:27855412
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