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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA


    • An association has been curated linking CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U 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:9589575 (Homo sapiens)
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U
  • Original References(s): PMID:23390185


    • An association has been curated linking CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U 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:21072199 (Homo sapiens)
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U
  • Original References(s): PMID:22522421 PMID:23288328 PMID:25741868 PMID:28492532


    • An association has been curated linking CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U 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:13794563 (Homo sapiens)
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U
  • Original References(s): PMID:22522420 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28973083


    • An association has been curated linking CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U 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:151351575 (Homo sapiens)
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U
  • Original References(s): PMID:25741868


    • An association has been curated linking CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U 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:152983980 (Homo sapiens)
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U
  • Original References(s): PMID:23217329 PMID:25741868 PMID:28492532 PMID:31909476


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

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Crppa (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: OMIM:616052


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

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U 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:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens) & RGD:11607221|RGD:11637125|RGD:11639927|RGD:11639942|RGD:13515502|RGD:13517622|RGD:13533708|RGD:15189194|RGD:152983996 (Homo sapiens)
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U 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:10049377 (Homo sapiens)
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2U  (DOID:0110295)
  • 4 papers in RGD have been used to annotate CRPPA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:29382405


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