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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MACF1 and lissencephaly 9 with complex brainstem malformation in Sus scrofa.        

  • 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 MACF1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to lissencephaly 9 with complex brainstem malformation  (DOID:0112228)
  • 0 papers in RGD have been used to annotate MACF1


    • An association has been curated linking MACF1 and lissencephaly 9 with complex brainstem malformation in Sus scrofa.        

  • 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 MACF1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to lissencephaly 9 with complex brainstem malformation  (DOID:0112228)
  • 0 papers in RGD have been used to annotate MACF1
  • Curation Notes: ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: MACF1-related condition | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia
  • Original References(s): PMID:24507697 PMID:25741868 PMID:28492532 PMID:29706646 PMID:30471716 PMID:33600046


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