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GENE - TERM ANNOTATION REPORT

32 Annotations Found.

An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:17878207, PMID:18195152, PMID:18691338, PMID:19067344, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21727005, PMID:22995991, PMID:24123366, PMID:25333069, PMID:25741868, PMID:26467025, PMID:27884173, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
  • Original References(s): PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:19299310, PMID:20816175, PMID:21447391, PMID:26908613, PMID:27391550, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:15236414, PMID:16427280, PMID:17559086, PMID:20215985, PMID:21361872, PMID:22323514, PMID:22522420, PMID:24733390, PMID:25741868, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:19299310, PMID:22554691, PMID:25741868, PMID:26938784, PMID:28492532, PMID:28832562


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:15466003, PMID:22554691, PMID:26908613, PMID:28424332, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:26467025, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:11709191, PMID:17030669, PMID:22554691, PMID:25525159, PMID:26467025, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:25326635, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:17878207, PMID:26467025, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:19679478, PMID:21361872, PMID:23689641, PMID:24731844, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:28492532, PMID:28688748, PMID:30961548


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:23689641, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
  • Original References(s): PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
  • Original References(s): PMID:15466003, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:25741868


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:11709191, PMID:22554691, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:28492532, PMID:30311386


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:17559086, PMID:18330676, PMID:22323514, PMID:23326386, PMID:28424332, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:28492532, PMID:30937090


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:15236414, PMID:16427280, PMID:17906881, PMID:21361872, PMID:25390965, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
  • Original References(s): PMID:15466003, PMID:17030669, PMID:19299310


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:28492532, PMID:28688748


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:17878207, PMID:19299310, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:15466003, PMID:17030669, PMID:17559086, PMID:17878207, PMID:18195152, PMID:19067344, PMID:21361872, PMID:22323514, PMID:24282183, PMID:25741868, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:17906881, PMID:19067344, PMID:21361872, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:15466003, PMID:21361872, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:19299310, PMID:19679478, PMID:21361872, PMID:23689641, PMID:24731844, PMID:28492532


  • An association has been curated linking Tspan1 and autosomal recessive limb-girdle muscular dystrophy type 2O in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 8 papers in CRRD have been used to annotate Tspan1
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:24033266, PMID:25741868, PMID:26467025


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.