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GENE - TERM ANNOTATION REPORT

RGD ID: 69424
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Plce1
Name: phospholipase C, epsilon 1
Acc ID: DOID:0080382
Term: nephrotic syndrome type 3
Definition: A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17086182 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18065803 "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)
Plce1 ISORGD:16060007240710OMIM  
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by OMIM:610725

 
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by OMIM:610725

PMID:17086182
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by OMIM:610725

PMID:20591883
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:18975016
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:18975016, PMID:20507940, PMID:25060053, PMID:25741868, PMID:26467025
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:18975016, PMID:23595123, PMID:24130771, PMID:24247120
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:18975016, PMID:25741868, PMID:26467025
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:18975016, PMID:26467025, PMID:28492532
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:20507940, PMID:24902943
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:20591883, PMID:25741868
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:22865593, PMID:26467025, PMID:28492532
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:24500309, PMID:25741868, PMID:26467025, PMID:27766458
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:24500309, PMID:26467025
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:25741868
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:25741868, PMID:26467025
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:25741868, PMID:26467025, PMID:28492532
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:25741868, PMID:28492532
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:25741868, PMID:31319225
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:26467025
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:26467025, PMID:28492532
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:26668027
Plce1 ISORGD:16060008554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.