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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:8646988 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:24369382 PMID:32214227


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:13610410 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:28492532 PMID:29358611


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:14717366 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:25741868


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:12836075 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:25741868 PMID:26467025


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:12741935 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:27959697 PMID:28492532


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:11350712|RGD:11547384|RGD:12847636|RGD:12882914|RGD:13531826|RGD:13814627 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:12882914|RGD:13531826|RGD:13814627 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:12882914|RGD:13531826|RGD:13814627 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:12882914|RGD:13531826|RGD:13814627 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:12882914|RGD:13531826|RGD:13814627 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:12882914|RGD:13531826|RGD:13814627 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:13622783|RGD:15105850 (Homo sapiens) & RGD:13622783|RGD:15105850 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:28492532


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:11348096 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:30949922


    • An association has been curated linking MAF and autosomal recessive spinocerebellar ataxia 12 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:11346050|RGD:12846254 (Homo sapiens) & RGD:11346050|RGD:12846254 (Homo sapiens)
  • 2 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 12  (DOID:0080060)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


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