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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking LOC132090498 and multiple congenital anomalies-hypotonia-seizures syndrome 1 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:151772291 (Homo sapiens)
  • 34 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 1  (DOID:0080138)
  • 0 papers in RGD have been used to annotate LOC132090498
  • Curation Notes: ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
  • Original References(s): PMID:16199547 PMID:24253414 PMID:27038415 PMID:28492532


    • An association has been curated linking LOC132090498 and multiple congenital anomalies-hypotonia-seizures syndrome 1 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:13622134 (Homo sapiens)
  • 34 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 1  (DOID:0080138)
  • 0 papers in RGD have been used to annotate LOC132090498
  • Curation Notes: ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking LOC132090498 and multiple congenital anomalies-hypotonia-seizures syndrome 1 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:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens) & RGD:127282110|RGD:127294641|RGD:13819238|RGD:14716259|RGD:151817969|RGD:152074939|RGD:402509849|RGD:405016306|RGD:405028105|RGD:405032897|RGD:405158994|RGD:405187963|RGD:405194231|RGD:405201188 (Homo sapiens)
  • 34 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 1  (DOID:0080138)
  • 0 papers in RGD have been used to annotate LOC132090498
  • Curation Notes: ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
  • Original References(s): PMID:28492532


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