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GENE - TERM ANNOTATION REPORT

RGD ID: 2324431
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prdm16
Name: PR/SET domain 16
Acc ID: DOID:0081157
Term: dilated cardiomyopathy 1LL
Definition: A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23768516/ "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)
Prdm16 ISOPRDM16 (Homo sapiens)7240710OMIM  
Prdm16 ISOPRDM16 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart diseasePMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 PMID:24140581 PMID:24387995 PMID:25640679 PMID:25741868 PMID:26350513 PMID:27535533 PMID:28492532 PMID:28798025 PMID:29367541 PMID:29447731 PMID:30847666 PMID:31333075 PMID:31568572 PMID:31648988 PMID:31983221 PMID:32041989 PMID:32233023 PMID:32746448 PMID:32880476 PMID:33500567 PMID:34540771 PMID:36178741 PMID:9536098
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