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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking ESR1 and autosomal dominant Emery-Dreifuss muscular dystrophy 4 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:8660802 (Homo sapiens)
  • 7 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 4  (DOID:0070249)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking ESR1 and autosomal dominant Emery-Dreifuss muscular dystrophy 4 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:11578851 (Homo sapiens)
  • 7 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 4  (DOID:0070249)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • Original References(s): PMID:28492532


    • An association has been curated linking ESR1 and autosomal dominant Emery-Dreifuss muscular dystrophy 4 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:126737320 (Homo sapiens)
  • 7 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 4  (DOID:0070249)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • Original References(s): PMID:25741868


    • An association has been curated linking ESR1 and autosomal dominant Emery-Dreifuss muscular dystrophy 4 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:13469942|RGD:8660804 (Homo sapiens) & RGD:13469942|RGD:8660804 (Homo sapiens)
  • 7 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 4  (DOID:0070249)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking ESR1 and autosomal dominant Emery-Dreifuss muscular dystrophy 4 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:11577941|RGD:8660803 (Homo sapiens) & RGD:11577941|RGD:8660803 (Homo sapiens)
  • 7 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 4  (DOID:0070249)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking ESR1 and autosomal dominant Emery-Dreifuss muscular dystrophy 4 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:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens) & RGD:11583167|RGD:11587819|RGD:11587996|RGD:11598697|RGD:11599077|RGD:11604234|RGD:11604930|RGD:11648711|RGD:11650283|RGD:11655083|RGD:11657806|RGD:28891771|RGD:28894923|RGD:28897133|RGD:28901228|RGD:28901234|RGD:28901241 (Homo sapiens)
  • 7 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 4  (DOID:0070249)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant


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