Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A2 in Pan paniscus.        

  • 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 POMT2 (Homo sapiens)
  • 1 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A2  (DOID:0111240)
  • 0 papers in CRRD have been used to annotate POMT2


  • An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A2 in Pan paniscus.        

  • 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 POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A2  (DOID:0111240)
  • 0 papers in CRRD have been used to annotate POMT2


  • An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A2 in Pan paniscus.        

  • 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 POMT2 (Homo sapiens)
  • 1 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A2  (DOID:0111240)
  • 0 papers in CRRD have been used to annotate POMT2
  • Curation Notes: ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
  • Original References(s): PMID:15894594, PMID:16701995, PMID:17634419, PMID:19299310, PMID:22323514, PMID:25741868, PMID:28492532


  • An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A2 in Pan paniscus.        

  • 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 POMT2 (Homo sapiens)
  • 1 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A2  (DOID:0111240)
  • 0 papers in CRRD have been used to annotate POMT2
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
  • Original References(s): PMID:15894594, PMID:16701995, PMID:17559086, PMID:17634419, PMID:17878207, PMID:17878297, PMID:18414213, PMID:18513969, PMID:18752264, PMID:19138766, PMID:19299310, PMID:22958903, PMID:24002165, PMID:25267602, PMID:25741868, PMID:26467025, PMID:26495167, PMID:27854218, PMID:28492532, PMID:28980384, PMID:29175898, PMID:30060766


  • Go Back to source page   Continue to Ontology report



    NHLBI Logo

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