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GENE - TERM ANNOTATION REPORT

3 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 or structural similarity (ISS)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence or structural similarity with POMGNT2 (Homo sapiens)
  • 1 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A8  (DOID:0111231)
  • 2 papers in CRRD 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
  • Original References(s): PMID:18414213, PMID:22958903, PMID:25558065, PMID:25741868, PMID:26467025, PMID:27066570, PMID:28492532


  • 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]
  • 1 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A8  (DOID:0111231)
  • 2 papers in CRRD 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 or structural similarity (ISS)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence or structural similarity with POMGNT2 (Homo sapiens)
  • 1 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A8  (DOID:0111231)
  • 2 papers in CRRD 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


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.