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GENE - TERM ANNOTATION REPORT

RGD ID: 1354320
Species: Homo sapiens
RGD Object: Gene
Symbol: TSPAN1
Name: tetraspanin 1
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)
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophyPMID:17559086 PMID:18330676 PMID:22323514 PMID:23326386 PMID:25741868 PMID:28424332 PMID:28492532
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, RecessivePMID:25741868 PMID:28492532
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophyPMID:23689641 PMID:25741868 PMID:28492532 PMID:29302074 PMID:31066047 PMID:32404165 PMID:33200426
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, RecessivePMID:16199547 PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophyPMID:15236414 PMID:15938569 PMID:17869517 PMID:17906881 PMID:21361872 PMID:23894383 PMID:25741868 PMID:28492532 PMID:33200426
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophyPMID:15236414 PMID:16427280 PMID:17906881 PMID:21361872 PMID:25390965 PMID:25741868 PMID:26467025 PMID:28492532
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophyPMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25741868 PMID:27493216 PMID:28492532 PMID:33144682
TSPAN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophyPMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532
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