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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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 developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:151809557 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: MDH2-related condition
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30008476 PMID:34718610


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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 developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens) & RGD:126725593|RGD:126725595|RGD:15104079|RGD:15146040|RGD:15182973|RGD:152036947|RGD:152099139|RGD:152127025|RGD:152137592|RGD:155707627|RGD:40815553 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 | ClinVar Annotator: match by term: MDH2-related condition
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:12791514 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51
  • Original References(s): PMID:25741868 PMID:27989324 PMID:28492532 PMID:34712577 PMID:36420423


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:126725598|RGD:126737602|RGD:243054293|RGD:243056076 (Homo sapiens) & RGD:126725598|RGD:126737602|RGD:243054293|RGD:243056076 (Homo sapiens) & RGD:126725598|RGD:126737602|RGD:243054293|RGD:243056076 (Homo sapiens) & RGD:126725598|RGD:126737602|RGD:243054293|RGD:243056076 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51
  • Original References(s): PMID:25741868


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:151827265 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51
  • Original References(s): PMID:17576681 PMID:28492532 PMID:36420423 PMID:9536098


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:12791513|RGD:12791893|RGD:12791905 (Homo sapiens) & RGD:12791513|RGD:12791893|RGD:12791905 (Homo sapiens) & RGD:12791513|RGD:12791893|RGD:12791905 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51
  • Original References(s): PMID:27989324


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:127261619|RGD:155698060|RGD:155794805 (Homo sapiens) & RGD:127261619|RGD:155698060|RGD:155794805 (Homo sapiens) & RGD:127261619|RGD:155698060|RGD:155794805 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:151855462 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51
  • Original References(s): PMID:28492532 PMID:36420423


    • An association has been curated linking MDH2 and developmental and epileptic encephalopathy 51 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:155924027 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 12 papers in RGD have been used to annotate MDH2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51
  • Original References(s): PMID:36420423


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