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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pigq and multiple congenital anomalies-hypotonia-seizures syndrome 4 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 PIGQ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 4  (DOID:0112213)
  • 0 papers in RGD have been used to annotate Pigq


    • An association has been curated linking Pigq and multiple congenital anomalies-hypotonia-seizures syndrome 4 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 PIGQ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome 4  (DOID:0112213)
  • 0 papers in RGD have been used to annotate Pigq
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition
  • Original References(s): PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31148362 PMID:32588908 PMID:32746448


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