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GENE - TERM ANNOTATION REPORT

24 Annotations Found.

An association has been curated linking ACTN2 and Distal Myopathy 6 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:12740988 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:27930701 PMID:28492532 PMID:34935411


    • An association has been curated linking ACTN2 and Distal Myopathy 6 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:10055720 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32746448


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:8606730 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:11578994 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:20022194 PMID:25741868 PMID:28492532 PMID:28790153


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:8606764 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 PMID:31983221 PMID:35026164


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:8566690 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:14567970 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26899768 PMID:27896284 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:8606773 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:24033266 PMID:24503780 PMID:25626705 PMID:25741868 PMID:28492532 PMID:28798025


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:10055715 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25611685 PMID:25741868 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:12883071 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29386531


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:12891671 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:27287556 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:11581004 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:26688388 PMID:28492532 PMID:29247119 PMID:30847666


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:8606742 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:20022194 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 PMID:28771489 PMID:32527005


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:8606757 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:10055696 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:28492532 PMID:31110529 PMID:31333075 PMID:31568572 PMID:31737537


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:10408629 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:24082139 PMID:25741868 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:8606749 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:13486604 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:28492532 PMID:35026164 PMID:37477868


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:10055716 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:20474083 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32826072


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:155795042|RGD:40815317 (Homo sapiens) & RGD:155795042|RGD:40815317 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:11091405|RGD:8606746|RGD:9690871 (Homo sapiens) & RGD:11091405|RGD:8606746|RGD:9690871 (Homo sapiens) & RGD:11091405|RGD:8606746|RGD:9690871 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens) & RGD:10055701|RGD:10055708|RGD:10055718|RGD:11578863|RGD:126766588|RGD:126921058|RGD:12833676|RGD:12836053|RGD:12882238|RGD:13475585|RGD:13490930|RGD:13534475|RGD:13606729|RGD:13606739|RGD:13811638|RGD:14688331|RGD:14703279|RGD:14706963|RGD:14975499|RGD:150490541|RGD:150532322|RGD:26923663|RGD:38472061|RGD:39456175 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:13809077|RGD:14711449 (Homo sapiens) & RGD:13809077|RGD:14711449 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking ACTN2 and Distal Myopathy 6 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:15040537|RGD:15040544 (Homo sapiens) & RGD:15040537|RGD:15040544 (Homo sapiens)
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 12 papers in RGD have been used to annotate ACTN2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:25741868 PMID:30900782


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