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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking PCK2 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 12 papers in RGD have been used to annotate PCK2


    • An association has been curated linking PCK2 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens) & RGD:126727560|RGD:126736739|RGD:126736743|RGD:12847461|RGD:13442756|RGD:13476711|RGD:13788225|RGD:14393778|RGD:15109903|RGD:151877624|RGD:41405095 (Homo sapiens)
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 12 papers in RGD have been used to annotate PCK2
  • Curation Notes: ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking PCK2 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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:152983195|RGD:401910355 (Homo sapiens) & RGD:152983195|RGD:401910355 (Homo sapiens)
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 12 papers in RGD have been used to annotate PCK2
  • Curation Notes: ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial


    • An association has been curated linking PCK2 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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:401883751 (Homo sapiens)
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 12 papers in RGD have been used to annotate PCK2
  • Curation Notes: ClinVar Annotator: match by term: PCK2-related condition
  • Original References(s): PMID:25741868


    • An association has been curated linking PCK2 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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:12743188 (Homo sapiens)
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 12 papers in RGD have been used to annotate PCK2
  • Curation Notes: ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking PCK2 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 12 papers in RGD have been used to annotate PCK2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking PCK2 and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens) & RGD:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens) & RGD:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens) & RGD:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens) & RGD:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens) & RGD:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens) & RGD:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens) & RGD:156084888|RGD:156144898|RGD:156326188|RGD:402473833|RGD:402474041|RGD:405132562|RGD:405168008|RGD:405202667 (Homo sapiens)
  • 2 RGD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 12 papers in RGD have been used to annotate PCK2
  • Curation Notes: ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy
  • Original References(s): PMID:28492532


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