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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking ESR1 and autosomal recessive spinocerebellar ataxia 8 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:126923919 (Homo sapiens)
  • 34 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 8  (DOID:0111618)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
  • Original References(s): PMID:25741868 PMID:27782104 PMID:28492532


  • An association has been curated linking ESR1 and autosomal recessive spinocerebellar ataxia 8 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)
  • 34 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 8  (DOID:0111618)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
  • Original References(s): PMID:26467025 PMID:28492532


  • An association has been curated linking ESR1 and autosomal recessive spinocerebellar ataxia 8 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|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens) & RGD:11578851|RGD:11636856|RGD:126738809|RGD:126749869|RGD:126773688|RGD:127236155|RGD:127319802|RGD:127335236|RGD:13483776|RGD:13515147|RGD:13620607|RGD:13620660|RGD:13620684|RGD:13835870|RGD:14714782|RGD:14725869|RGD:14736877|RGD:15150713|RGD:151806763|RGD:151808535|RGD:15196502|RGD:152057601|RGD:156143387|RGD:156193379|RGD:156196838|RGD:26887907|RGD:402518561|RGD:405007028 (Homo sapiens)
  • 34 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 8  (DOID:0111618)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
  • Original References(s): PMID:28492532


  • An association has been curated linking ESR1 and autosomal recessive spinocerebellar ataxia 8 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:13522281|RGD:38483849|RGD:8660804 (Homo sapiens) & RGD:13469942|RGD:13522281|RGD:38483849|RGD:8660804 (Homo sapiens) & RGD:13469942|RGD:13522281|RGD:38483849|RGD:8660804 (Homo sapiens) & RGD:13469942|RGD:13522281|RGD:38483849|RGD:8660804 (Homo sapiens)
  • 34 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 8  (DOID:0111618)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking ESR1 and autosomal recessive spinocerebellar ataxia 8 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:13516543|RGD:13833644|RGD:151801693|RGD:151822411|RGD:26896282|RGD:8660802 (Homo sapiens) & RGD:13516543|RGD:13833644|RGD:151801693|RGD:151822411|RGD:26896282|RGD:8660802 (Homo sapiens) & RGD:13516543|RGD:13833644|RGD:151801693|RGD:151822411|RGD:26896282|RGD:8660802 (Homo sapiens) & RGD:13516543|RGD:13833644|RGD:151801693|RGD:151822411|RGD:26896282|RGD:8660802 (Homo sapiens) & RGD:13516543|RGD:13833644|RGD:151801693|RGD:151822411|RGD:26896282|RGD:8660802 (Homo sapiens) & RGD:13516543|RGD:13833644|RGD:151801693|RGD:151822411|RGD:26896282|RGD:8660802 (Homo sapiens)
  • 34 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 8  (DOID:0111618)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking ESR1 and autosomal recessive spinocerebellar ataxia 8 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)
  • 34 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 8  (DOID:0111618)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia


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