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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pomgnt2 and congenital muscular dystrophy-dystroglycanopathy type A8 in Chinchilla lanigera.        

  • 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 POMGNT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A8  (DOID:0111231)
  • 2 papers in RGD have been used to annotate Pomgnt2


    • An association has been curated linking Pomgnt2 and congenital muscular dystrophy-dystroglycanopathy type A8 in Chinchilla lanigera.        

  • 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 POMGNT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A8  (DOID:0111231)
  • 2 papers in RGD have been used to annotate Pomgnt2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED
  • Original References(s): PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 PMID:27066570 PMID:28492532 PMID:31130284 PMID:32570172 PMID:35131284 PMID:35229910


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