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GENE - TERM ANNOTATION REPORT

RGD ID: 1606000
Species: Homo sapiens
RGD Object: Gene
Symbol: PLCE1
Name: phospholipase C epsilon 1
Acc ID: DOID:1184
Term: nephrotic syndrome
Definition: A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Nephrotic_syndrome "DO" "DO", https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults "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)
PLCE1onsetIAGP 7257519RGDDNA:mutations: : 
PLCE1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 
PLCE1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndromePMID:28492532
PLCE1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndromePMID:29127259
PLCE1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndromePMID:25741868
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