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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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 hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:21963049


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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:8567799 (Homo sapiens)
  • 2 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
  • Original References(s): PMID:21963049 PMID:25741868 PMID:26975589


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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 hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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:156341835 (Homo sapiens)
  • 2 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: ClinVar Annotator: match by term: ADK-related condition
  • Original References(s): PMID:25741868 PMID:26642971 PMID:28492532


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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:13462359|RGD:152029338|RGD:152104859|RGD:28907981 (Homo sapiens) & RGD:13462359|RGD:152029338|RGD:152104859|RGD:28907981 (Homo sapiens) & RGD:13462359|RGD:152029338|RGD:152104859|RGD:28907981 (Homo sapiens) & RGD:13462359|RGD:152029338|RGD:152104859|RGD:28907981 (Homo sapiens)
  • 2 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens) & RGD:11601319|RGD:11606451|RGD:11606743|RGD:11610975|RGD:11611229|RGD:11611231|RGD:15195964|RGD:21071930|RGD:28900619 (Homo sapiens)
  • 2 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
  • Original References(s): PMID:28492532


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens) & RGD:11602726|RGD:11604229|RGD:11607036|RGD:11609016|RGD:11609137|RGD:11612025|RGD:11646412|RGD:11651032|RGD:11652098|RGD:11655261|RGD:11655750|RGD:11659652|RGD:11662319|RGD:21069221|RGD:21071932|RGD:28900622|RGD:28901328|RGD:28901330|RGD:28901333|RGD:28906816|RGD:28906819|RGD:28907004|RGD:28907979 (Homo sapiens)
  • 2 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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:8567800|RGD:8567801 (Homo sapiens) & RGD:8567800|RGD:8567801 (Homo sapiens)
  • 2 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
  • Original References(s): PMID:21963049


    • An association has been curated linking ADK and hypermethioninemia due to adenosine kinase deficiency 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:10045066|RGD:150404810|RGD:243052521|RGD:28890660|RGD:401873191 (Homo sapiens) & RGD:10045066|RGD:150404810|RGD:243052521|RGD:28890660|RGD:401873191 (Homo sapiens) & RGD:10045066|RGD:150404810|RGD:243052521|RGD:28890660|RGD:401873191 (Homo sapiens) & RGD:10045066|RGD:150404810|RGD:243052521|RGD:28890660|RGD:401873191 (Homo sapiens) & RGD:10045066|RGD:150404810|RGD:243052521|RGD:28890660|RGD:401873191 (Homo sapiens)
  • 2 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 25 papers in RGD have been used to annotate ADK
  • Curation Notes: ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
  • Original References(s): PMID:25741868


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