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GENE - TERM ANNOTATION REPORT

RGD ID: 1564403
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lrsam1
Name: leucine rich repeat and sterile alpha motif containing 1
Acc ID: DOID:10595
Term: Charcot-Marie-Tooth disease
Definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
Definition Source(s): https://www.genome.gov/11009201 "DO" "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "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)
Lrsam1 ISOLRSAM1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:20865121
Lrsam1 ISOLRSAM1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophyPMID:16199547 PMID:17576681 PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25741868 PMID:26752306 PMID:28286897 PMID:28335037 PMID:28492532 PMID:29341362 PMID:29417091 PMID:29845787 PMID:31211173 PMID:32376792 PMID:33414056 PMID:9536098
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