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GENE - TERM ANNOTATION REPORT

91 Annotations Found.

An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • 2 additional annotations were made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)

  • This annotation was curated on 2018-04-21 09:00:27.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Sveen ML, etal., Ann Neurol. 2006 May;59(5):808-15.
  • 2 additional annotations were made from Sveen ML, etal., Ann Neurol. 2006 May;59(5):808-15.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:duplications, missense mutations:exon:multiple

  • This annotation was curated on 2018-04-21 09:00:27.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Frosk P, etal., Hum Mutat. 2005 Jan;25(1):38-44.
  • 2 additional annotations were made from Frosk P, etal., Hum Mutat. 2005 Jan;25(1):38-44.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:missense mutation:exon:p.L276I (826C>A) (human)

  • This annotation was curated on 2018-04-21 09:00:30.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Brockington M, etal., Hum Mol Genet. 2001 Dec 1;10(25):2851-9.
  • 2 additional annotations were made from Brockington M, etal., Hum Mol Genet. 2001 Dec 1;10(25):2851-9.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:deletion, missense mutations, nonsense mutation: :multiple

  • This annotation was curated on 2018-04-21 09:00:40.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Qiao C, etal., Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141. Epub 2014 Jul 22.
  • 2 additional annotations were made from Qiao C, etal., Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141. Epub 2014 Jul 22.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Qualifier: treatment

  • This annotation was curated on 2018-04-21 09:00:41.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8643017 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:16344347, PMID:19244252, PMID:23757202, PMID:24033266, PMID:25741868, PMID:26467025

  • This annotation was curated on 2020-01-07 07:00:29.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Kefi M, etal., Neuropediatrics. 2008 Apr;39(2):113-5. doi: 10.1055/s-2008-1081465.
  • 2 additional annotations were made from Kefi M, etal., Neuropediatrics. 2008 Apr;39(2):113-5. doi: 10.1055/s-2008-1081465.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:missense mutations: :1364C>A, 1486T>A (human)

  • This annotation was curated on 2018-04-21 09:00:52.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
  • 3 additional annotations were made from Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)

  • This annotation was curated on 2018-04-21 09:00:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Vieira NM, etal., Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.
  • 2 additional annotations were made from Vieira NM, etal., Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:missense mutation: :pP89A (human)

  • This annotation was curated on 2018-04-21 09:00:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8643027 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:20623375, PMID:26467025

  • This annotation was curated on 2020-01-07 07:00:30.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13506599 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:02:01.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8659562 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:14647208, PMID:18414213, PMID:25741868, PMID:26467025, PMID:27439679, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:03.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13506294 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:02:01.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11577994 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:00:02.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596350 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:12707439, PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:55.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596348 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:11592034, PMID:12471058, PMID:15574464, PMID:17554798, PMID:19900540, PMID:23591631, PMID:25741868

  • This annotation was curated on 2020-01-07 07:01:54.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596356 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:14647208, PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10052229 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:01:51.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596358 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:14647208

  • This annotation was curated on 2020-01-07 07:01:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633737 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:58:23.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633863 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:59:23.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596355 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:14523375

  • This annotation was curated on 2020-01-07 07:01:55.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8591066 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:20236121

  • This annotation was curated on 2020-01-07 07:02:57.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596349 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:11741828, PMID:12666124, PMID:14647208, PMID:15060126, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16634037, PMID:16786213, PMID:17554798, PMID:18060779, PMID:18593008, PMID:18639457, PMID:19820980, PMID:19835634, PMID:19900540, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23576288, PMID:23591631, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:54.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596362 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:17336067, PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8557949 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:11741828

  • This annotation was curated on 2020-01-07 06:56:50.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11632690 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:27.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11634375 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:58:53.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596357 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:14647208

  • This annotation was curated on 2020-01-07 07:01:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP

  • This annotation was curated on 2020-01-08 19:57:11.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8643024 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:14647208, PMID:25741868, PMID:26467025, PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:29.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13528586 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:00:08.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11632750 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:43.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:15017069 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:02:38.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13617292 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:16368217, PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:11.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13783085 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:13.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8643021 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:00:29.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13788943 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:21.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13791203 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:02:03.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13784743 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:55.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10406563 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 06:58:52.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13789409 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:11592034, PMID:19917824

  • This annotation was curated on 2020-01-07 07:00:34.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13791954 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:00:41.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13783003 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:27439679

  • This annotation was curated on 2020-01-07 07:00:58.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11346436 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11549283 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 06:57:04.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13787893 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:12707425, PMID:15580560, PMID:19900540, PMID:23591631

  • This annotation was curated on 2020-01-07 06:58:07.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596353 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:12654965, PMID:14652796, PMID:15574464, PMID:16368217, PMID:18671187, PMID:19955119, PMID:23420653, PMID:23894383, PMID:26467025, PMID:28454995, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:55.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13783119 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:22.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596351 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:11053680, PMID:12654965, PMID:19833706

  • This annotation was curated on 2020-01-07 07:01:55.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13789227 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:59:59.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8643026 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:00:30.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13782767 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:02.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13791953 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:22983245

  • This annotation was curated on 2020-01-07 07:00:41.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13785424 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:58:32.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13784910 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:12666124, PMID:16344347, PMID:16634037

  • This annotation was curated on 2020-01-07 07:00:07.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13785471 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:00:47.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13617294 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:16476814, PMID:18639457, PMID:19299310, PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:11.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13786110 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:15060126

  • This annotation was curated on 2020-01-07 06:56:32.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13789979 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:12666124, PMID:28688748

  • This annotation was curated on 2020-01-07 07:00:00.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13787407 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:52.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13792002 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:24139536

  • This annotation was curated on 2020-01-07 06:56:38.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13789059 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:54.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13790364 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:57:41.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8659563 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:16344347, PMID:17994539, PMID:18832576, PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:03.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11348008 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:18.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11547860 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:01:07.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11639690 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:28688748

  • This annotation was curated on 2020-01-07 07:02:50.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13785389 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:00:46.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13787179 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:24139536

  • This annotation was curated on 2020-01-07 07:00:45.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13782916 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:20623375, PMID:27671536

  • This annotation was curated on 2020-01-07 07:00:34.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13787855 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:27439679

  • This annotation was curated on 2020-01-07 07:01:33.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13785201 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:19917824

  • This annotation was curated on 2020-01-07 07:00:30.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13783043 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:01:08.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13786398 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 06:56:59.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633545 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:02:53.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13785284 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:01:01.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13791956 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

  • This annotation was curated on 2020-01-07 07:00:59.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13785967 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:11592034, PMID:12666124, PMID:12707425, PMID:14742276, PMID:26436962, PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:29.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8643020 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:11592034, PMID:12707439, PMID:15060126, PMID:16344347, PMID:16476814, PMID:17559086, PMID:18752264, PMID:23757202, PMID:25741868, PMID:26467025, PMID:27854218, PMID:27884173, PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:29.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13789355 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:15833426, PMID:16368217, PMID:17113772, PMID:17446099, PMID:18639457, PMID:18691338, PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:16.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11640139 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:16344347, PMID:17952692, PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:42.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10052224 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:18832576, PMID:24257234, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:50.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11639030 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:18832576

  • This annotation was curated on 2020-01-07 06:58:23.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10052228 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
  • Original References(s): PMID:12666124

  • This annotation was curated on 2020-01-07 07:01:51.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11580531 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
  • Original References(s): PMID:14647208, PMID:18639457, PMID:23800702, PMID:25741868, PMID:25987458, PMID:27439679, PMID:28492532, PMID:28931339

  • This annotation was curated on 2020-01-07 07:01:22.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596360 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
  • Original References(s): PMID:12666124, PMID:15060126, PMID:15121789, PMID:16476814, PMID:16634037, PMID:18639457, PMID:19155270, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11348442 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
  • Original References(s): PMID:14647208, PMID:15060126, PMID:24447024, PMID:25741868, PMID:27848944, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:28.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633753 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
  • Original References(s): PMID:11592034, PMID:18160674, PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:37.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8596359 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
  • Original References(s): PMID:14647208, PMID:15060126, PMID:20961759, PMID:24447024, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:56.0 by RGD . For more information contact us

    An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13517194 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
  • Original References(s): PMID:17055682, PMID:23800702, PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:48.0 by RGD . For more information contact us

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