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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2


    • An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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:15040504 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81
  • Original References(s): PMID:30237576


    • An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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:151663428 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81


    • An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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:151663427 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81
  • Original References(s): PMID:28492532


    • An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens) & RGD:150339457|RGD:150435415|RGD:150435462|RGD:150436551|RGD:150477738|RGD:150496729|RGD:150512428|RGD:151879135|RGD:15191371 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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:156362870 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens) & RGD:150430218|RGD:150435455|RGD:150435496|RGD:150436645|RGD:150482176|RGD:153345598|RGD:156434512|RGD:401859107|RGD:401946507 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81
  • Original References(s): PMID:25741868


    • An association has been curated linking DMXL2 and developmental and epileptic encephalopathy 81 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:15040216|RGD:15040217|RGD:15040226|RGD:15040505 (Homo sapiens) & RGD:15040216|RGD:15040217|RGD:15040226|RGD:15040505 (Homo sapiens) & RGD:15040216|RGD:15040217|RGD:15040226|RGD:15040505 (Homo sapiens) & RGD:15040216|RGD:15040217|RGD:15040226|RGD:15040505 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 81  (DOID:0112217)
  • 5 papers in RGD have been used to annotate DMXL2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81
  • Original References(s): PMID:31688942


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