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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:10409601 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:23401503 PMID:25732997 PMID:26467025 PMID:28492532 PMID:29892051 PMID:30174309 PMID:31028937 PMID:9207786


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:8621890 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:22187496


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:11567778 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:25732997 PMID:7609449 PMID:8479824


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:11567785 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:25732997


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:8600906 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 PMID:28823815 PMID:29654543 PMID:33923309


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:13794642 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:13794642|RGD:15121747 (Homo sapiens) & RGD:13794642|RGD:15121747 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking SLC25A4 and mitochondrial DNA depletion syndrome 12b 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:401944396 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 12b  (DOID:0080335)
  • 19 papers in RGD have been used to annotate SLC25A4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Original References(s): PMID:25741868


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