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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Fkrp and autosomal recessive limb-girdle muscular dystrophy in Mus musculus.        

  • 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 FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 22 papers in RGD have been used to annotate Fkrp
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
  • Original References(s): PMID:11741828 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:17952692 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21970816 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27302555 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28688748 PMID:29065428 PMID:29101272 PMID:29382405 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32419263 PMID:32429923 PMID:32746448 PMID:34008892 PMID:34440373 PMID:34653404 PMID:35239206


  • An association has been curated linking Fkrp and autosomal recessive limb-girdle muscular dystrophy in Mus musculus.        

  • 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 FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 22 papers in RGD have been used to annotate Fkrp
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
  • Original References(s): PMID:11741828 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:17952692 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27302555 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28688748 PMID:29065428 PMID:29382405 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32419263 PMID:32429923 PMID:32746448 PMID:34008892 PMID:34653404


  • An association has been curated linking Fkrp and autosomal recessive limb-girdle muscular dystrophy in Mus musculus.        

  • 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 FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 22 papers in RGD have been used to annotate Fkrp
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy
  • Original References(s): PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:25802880 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30564623 PMID:30919934 PMID:31268217 PMID:32419263 PMID:32746448 PMID:34008892 PMID:34653404


  • An association has been curated linking Fkrp and autosomal recessive limb-girdle muscular dystrophy in Mus musculus.        

  • 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 FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 22 papers in RGD have been used to annotate Fkrp
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
  • Original References(s): PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:17952692 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:25802880 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28688748 PMID:29065428 PMID:29382405 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31931849 PMID:32115343 PMID:32419263 PMID:32429923 PMID:32746448 PMID:34008892 PMID:34653404


  • An association has been curated linking Fkrp and autosomal recessive limb-girdle muscular dystrophy in Mus musculus.        

  • 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 FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 22 papers in RGD have been used to annotate Fkrp
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy
  • Original References(s): PMID:10838249 PMID:11741828 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:17952692 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21970816 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27302555 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28688748 PMID:29065428 PMID:29101272 PMID:29382405 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32419263 PMID:32429923 PMID:32746448 PMID:34008892 PMID:34440373 PMID:34653404 PMID:35239206


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