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GENE - TERM ANNOTATION REPORT

RGD ID: 14006985
Species: Sus scrofa
RGD Object: Gene
Symbol: LIPE
Name: lipase E, hormone sensitive type
Acc ID: DOID:0070206
Term: familial partial lipodystrophy type 6
Definition: A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24848981 "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)
LIPE ISOLIPE (Homo sapiens)7240710OMIM  
LIPE ISOLIPE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LIPE-related familial partial lipodystrophyPMID:24375490 PMID:24848981 PMID:25475467 PMID:25741868 PMID:27862896 PMID:28492532 PMID:32041611 PMID:35460704
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