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GENE - TERM ANNOTATION REPORT

13 Annotations Found.

An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:21074708 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:25817015 PMID:28492532 PMID:28493438 PMID:34446925


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:150545517 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:28493438


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:10044283 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:21494555 PMID:25741868 PMID:25817015 PMID:28492532 PMID:29653220 PMID:33294374


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:10044739 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:21494555 PMID:25817015


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:13492901 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29653220


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens) & RGD:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens) & RGD:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens) & RGD:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens) & RGD:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens) & RGD:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens) & RGD:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens) & RGD:10406009|RGD:11581661|RGD:11622823|RGD:126745230|RGD:126759224|RGD:13495455|RGD:14744006|RGD:21075416 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:150533532 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32571458


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:11523420 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28493438 PMID:31791873 PMID:34446925


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:13705799|RGD:151235789|RGD:151348360|RGD:401723076|RGD:401963919 (Homo sapiens) & RGD:13705799|RGD:151235789|RGD:151348360|RGD:401723076|RGD:401963919 (Homo sapiens) & RGD:13705799|RGD:151235789|RGD:151348360|RGD:401723076|RGD:401963919 (Homo sapiens) & RGD:13705799|RGD:151235789|RGD:151348360|RGD:401723076|RGD:401963919 (Homo sapiens) & RGD:13705799|RGD:151235789|RGD:151348360|RGD:401723076|RGD:401963919 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:13475147|RGD:401723078 (Homo sapiens) & RGD:13475147|RGD:401723078 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:28492532


    • An association has been curated linking AARS1 and developmental and epileptic encephalopathy 29 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:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens) & RGD:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens) & RGD:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens) & RGD:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens) & RGD:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens) & RGD:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens) & RGD:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens) & RGD:127290020|RGD:127290024|RGD:150529432|RGD:152999174|RGD:152999467|RGD:155265362|RGD:243050220|RGD:401940457 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 29  (DOID:0080451)
  • 7 papers in RGD have been used to annotate AARS1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29
  • Original References(s): PMID:25741868


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