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GENE - TERM ANNOTATION REPORT

RGD ID: 2025
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Acta1
Name: actin, alpha 1, skeletal muscle
Acc ID: DOID:9003151
Term: Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Definition: null
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)
Acta1 ISOACTA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, actin, congenital, with excess of thin myofilamentsPMID:10508519 PMID:10838259 PMID:11333380 PMID:12921789 PMID:1351946 PMID:15198992 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:17187373 PMID:17705262 PMID:18059071 PMID:19206168 PMID:19562689 PMID:20301436 PMID:21520333 PMID:22067542 PMID:22095987 PMID:22825594 PMID:23294764 PMID:23394784 PMID:23650303 PMID:23757202 PMID:24033266 PMID:24356988 PMID:24642510 PMID:25326635 PMID:25635128 PMID:25741868 PMID:25747004 PMID:25938801 PMID:26172852 PMID:26337181 PMID:27112274 PMID:27447704 PMID:28492532 PMID:29288010 PMID:30732915 PMID:30792901 PMID:32154989 PMID:35810298 PMID:39825153 PMID:4952447 PMID:9401010
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