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GENE - TERM ANNOTATION REPORT

RGD ID: 1311399
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ppcs
Name: phosphopantothenoylcysteine synthetase
Acc ID: DOID:0081159
Term: dilated cardiomyopathy 2C
Definition: A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29754768/ "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)
Ppcs ISOPPCS (Homo sapiens)7240710OMIM  
Ppcs ISOPPCS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, dilated, 2cPMID:25741868 PMID:28492532 PMID:29754768
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