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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking MAF and developmental and epileptic encephalopathy 28 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:12836075 (Homo sapiens)
  • 36 RGD objects have been annotated to developmental and epileptic encephalopathy 28  (DOID:0080452)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28
  • Original References(s): PMID:25741868 PMID:26467025


  • An association has been curated linking MAF and developmental and epileptic encephalopathy 28 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:151349410 (Homo sapiens)
  • 36 RGD objects have been annotated to developmental and epileptic encephalopathy 28  (DOID:0080452)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28


  • An association has been curated linking MAF and developmental and epileptic encephalopathy 28 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:126739689|RGD:13478460|RGD:14717366|RGD:151233370 (Homo sapiens) & RGD:126739689|RGD:13478460|RGD:14717366|RGD:151233370 (Homo sapiens) & RGD:126739689|RGD:13478460|RGD:14717366|RGD:151233370 (Homo sapiens) & RGD:126739689|RGD:13478460|RGD:14717366|RGD:151233370 (Homo sapiens)
  • 36 RGD objects have been annotated to developmental and epileptic encephalopathy 28  (DOID:0080452)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28
  • Original References(s): PMID:25741868


  • An association has been curated linking MAF and developmental and epileptic encephalopathy 28 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:11350712|RGD:11547384|RGD:12847636|RGD:13814627|RGD:152979523 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:13814627|RGD:152979523 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:13814627|RGD:152979523 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:13814627|RGD:152979523 (Homo sapiens) & RGD:11350712|RGD:11547384|RGD:12847636|RGD:13814627|RGD:152979523 (Homo sapiens)
  • 36 RGD objects have been annotated to developmental and epileptic encephalopathy 28  (DOID:0080452)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking MAF and developmental and epileptic encephalopathy 28 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:11346050|RGD:12846254 (Homo sapiens) & RGD:11346050|RGD:12846254 (Homo sapiens)
  • 36 RGD objects have been annotated to developmental and epileptic encephalopathy 28  (DOID:0080452)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking MAF and developmental and epileptic encephalopathy 28 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:11348096 (Homo sapiens)
  • 36 RGD objects have been annotated to developmental and epileptic encephalopathy 28  (DOID:0080452)
  • 9 papers in RGD have been used to annotate MAF
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:30949922


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