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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking HMSD 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:151816765 (Homo sapiens)
  • 34 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 1  (DOID:0080138)
  • 1 papers in RGD have been used to annotate HMSD
  • Curation Notes: ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
  • Original References(s): PMID:28492532


    • An association has been curated linking HMSD 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:151717014 (Homo sapiens)
  • 34 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 1  (DOID:0080138)
  • 1 papers in RGD have been used to annotate HMSD
  • Curation Notes: ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
  • Original References(s): PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532


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