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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Durbeej M, etal., Mol Cell. 2000 Jan;5(1):141-51.
  • The annotation has been inferred from sequence orthology with Sgcb (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Durbeej M, etal., Mol Cell. 2000 Jan;5(1):141-51.
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2E  (DOID:0110279)
  • 8 papers in RGD have been used to annotate Sgcb


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Pozsgai ER, etal., Mol Ther. 2017 Apr 5;25(4):855-869. doi: 10.1016/j.ymthe.2017.02.013. Epub 2017 Mar 9.
  • The annotation has been inferred from sequence orthology with SGCB (Homo sapiens) [(IDA) inferred from direct assay]
  • 2 additional annotations were made from Pozsgai ER, etal., Mol Ther. 2017 Apr 5;25(4):855-869. doi: 10.1016/j.ymthe.2017.02.013. Epub 2017 Mar 9.
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2E  (DOID:0110279)
  • 8 papers in RGD have been used to annotate Sgcb
  • Qualifier: treatment


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SGCB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2E  (DOID:0110279)
  • 8 papers in RGD have been used to annotate Sgcb


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SGCB (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2E  (DOID:0110279)
  • 8 papers in RGD have been used to annotate Sgcb
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Sgcb (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2E  (DOID:0110279)
  • 8 papers in RGD have been used to annotate Sgcb
  • Curation Notes: OMIM:604286


    • An association has been curated linking Sgcb and autosomal recessive limb-girdle muscular dystrophy type 2E 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 SGCB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2E  (DOID:0110279)
  • 8 papers in RGD have been used to annotate Sgcb
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4
  • Original References(s): PMID:10660328 PMID:10662809 PMID:10874299 PMID:10942431 PMID:10993494 PMID:11166169 PMID:11369190 PMID:12566530 PMID:12746421 PMID:12868499 PMID:15032976 PMID:15938573 PMID:15938574 PMID:16199547 PMID:16524571 PMID:17576681 PMID:17994539 PMID:18285821 PMID:18996010 PMID:19763152 PMID:19770540 PMID:20071171 PMID:20307669 PMID:21480868 PMID:22095924 PMID:22406018 PMID:23349452 PMID:25135358 PMID:25337728 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25862795 PMID:26206375 PMID:26404900 PMID:26467025 PMID:26990548 PMID:27108072 PMID:27234031 PMID:27276190 PMID:27671536 PMID:28403181 PMID:28492532 PMID:28687063 PMID:28883879 PMID:28889091 PMID:29797799 PMID:29970176 PMID:30564623 PMID:30764848 PMID:30838351 PMID:30919934 PMID:31069529 PMID:31268554 PMID:31937337 PMID:31980526 PMID:32528171 PMID:32875335 PMID:33250842 PMID:34008892 PMID:34925456 PMID:35416532 PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 PMID:9565988 PMID:9631401


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