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GENE - TERM ANNOTATION REPORT

RGD ID: 620456
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lmna
Name: lamin A/C
Acc ID: DOID:0110274
Term: autosomal recessive limb-girdle muscular dystrophy
Definition: A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/13810212 "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)
Lmna ISOLMNA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, RecessivePMID:11102973 PMID:12920062 PMID:15475483 PMID:15998779 PMID:17377071 PMID:17576681 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:21465660 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 PMID:29237675 PMID:29952368 PMID:30402260 PMID:32818388 PMID:33407844 PMID:9536098
Lmna ISOLMNA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, RecessivePMID:11102973 PMID:12920062 PMID:15475483 PMID:15998779 PMID:17377071 PMID:17576681 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 PMID:29237675 PMID:29952368 PMID:30402260 PMID:32818388 PMID:33407844 PMID:9536098
Lmna ISOLMNA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, RecessivePMID:12920062 PMID:15475483 PMID:15998779 PMID:17377071 PMID:17576681 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 PMID:9536098
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