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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:11039853 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
  • Original References(s): PMID:10528257 PMID:25808372


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:11039899 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
  • Original References(s): PMID:26657514


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:401721056 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
  • Original References(s): PMID:25741868 PMID:32369273


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:126741429 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: CPD III
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:12791686|RGD:12791747 (Homo sapiens) & RGD:12791686|RGD:12791747 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens) & RGD:126737952|RGD:126737955|RGD:126741420|RGD:126741424|RGD:150436721|RGD:150436725|RGD:150514525|RGD:155798270|RGD:243050501|RGD:243059586|RGD:401721361 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
  • Original References(s): PMID:25741868


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:11039897|RGD:11039901 (Homo sapiens) & RGD:11039897|RGD:11039901 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
  • Original References(s): PMID:25808372


    • An association has been curated linking PMPCA and autosomal recessive spinocerebellar ataxia 2 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:150502740|RGD:152071398 (Homo sapiens) & RGD:150502740|RGD:152071398 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 6 papers in RGD have been used to annotate PMPCA
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
  • Original References(s): PMID:25741868 PMID:28492532


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