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GENE - TERM ANNOTATION REPORT

RGD ID: 3136
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Myh11
Name: myosin heavy chain 11
Acc ID: DOID:0050466
Term: Loeys-Dietz syndrome
Definition: A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome "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)
Myh11 ISOMYH11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Loeys-Dietz syndromePMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567
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