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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pomt2 and congenital muscular dystrophy-dystroglycanopathy type A2 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 POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A2  (DOID:0111240)
  • 0 papers in RGD have been used to annotate Pomt2


    • An association has been curated linking Pomt2 and congenital muscular dystrophy-dystroglycanopathy type A2 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 POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A2  (DOID:0111240)
  • 0 papers in RGD have been used to annotate Pomt2
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
  • Original References(s): PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22700954 PMID:22958903 PMID:24002165 PMID:24033266 PMID:24183756 PMID:25214167 PMID:25267602 PMID:25741868 PMID:25741915 PMID:26013959 PMID:26467025 PMID:26495167 PMID:26886200 PMID:27447704 PMID:27457812 PMID:27854218 PMID:27894351 PMID:28492532 PMID:28688748 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:31127727 PMID:32140910 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33176815 PMID:33200426 PMID:34413876 PMID:35628876 PMID:36048137 PMID:9536098


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