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GENE - TERM ANNOTATION REPORT

RGD ID: 12156294
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SOHLH1
Name: spermatogenesis and oogenesis specific basic helix-loop-helix 1
Acc ID: DOID:0080497
Term: ovarian dysgenesis 5
Definition: A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. (DO)
Definition Source(s): https://www.omim.org/entry/617690 "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)
SOHLH1 ISOSOHLH1 (Homo sapiens)7240710OMIM  
SOHLH1 ISOSOHLH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ovarian dysgenesis 5PMID:17301727 PMID:25741868 PMID:25774885
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