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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pign and multiple congenital anomalies-hypotonia-seizures syndrome 1 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with PIGN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 1  (DOID:0080138)
  • 0 papers in RGD have been used to annotate Pign


    • An association has been curated linking Pign and multiple congenital anomalies-hypotonia-seizures syndrome 1 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with PIGN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 1  (DOID:0080138)
  • 0 papers in RGD have been used to annotate Pign
  • Curation Notes: ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
  • Original References(s): PMID:10677500 PMID:16199547 PMID:17576681 PMID:18606301 PMID:21493957 PMID:22271396 PMID:24033266 PMID:24253414 PMID:24852103 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25920937 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:27290639 PMID:27891564 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:30293990 PMID:30609409 PMID:30660939 PMID:30665423 PMID:30709774 PMID:31440721 PMID:31628766 PMID:31827275 PMID:32064623 PMID:32220244 PMID:32860008 PMID:33193741 PMID:33502061 PMID:33619735 PMID:33763700 PMID:34051595 PMID:34426522 PMID:34782754 PMID:34906502 PMID:34930662 PMID:34958143 PMID:351792 PMID:35179230 PMID:35322241 PMID:35468813 PMID:35982159 PMID:36322149 PMID:38959600 PMID:9536098


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