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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:0111772
Term: 46,XY sex reversal 3
Definition: A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10369247 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "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: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATEDPMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17576681 PMID:17694559 PMID:18414213 PMID:19246354 PMID:20887963 PMID:21691958 PMID:22028768 PMID:22474171 PMID:22549935 PMID:25122490 PMID:25326637 PMID:25741868 PMID:25989977 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 PMID:28033660 PMID:28492532 PMID:29095814 PMID:29935645 PMID:30425642 PMID:31513305 PMID:31745530 PMID:32738419 PMID:33202802 PMID:33351340 PMID:35690514 PMID:36572623 PMID:9536098
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