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GENE - TERM ANNOTATION REPORT

RGD ID: 18906153
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Prepl
Name: prolyl endopeptidase like
Acc ID: DOID:0080587
Term: congenital myasthenic syndrome 22
Definition: A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28726805 "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)
Prepl ISOPREPL (Homo sapiens)7240710OMIM  
Prepl ISOPREPL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 | ClinVar Annotator: match by term: PREPL DEFICIENCYPMID:10737983 PMID:16199547 PMID:17576681 PMID:19782624 PMID:22796000 PMID:24033266 PMID:24610330 PMID:25741868 PMID:28492532 PMID:28726805 PMID:29483676 PMID:29913539 PMID:32707643 PMID:32860008 PMID:33233562 PMID:9536098
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