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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pomt1 and congenital muscular dystrophy-dystroglycanopathy type A1 in Rattus norvegicus.        

  • 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 20 papers in RGD have been used to annotate Pomt1


  • An association has been curated linking Pomt1 and congenital muscular dystrophy-dystroglycanopathy type A1 in Rattus norvegicus.        

  • 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • Original References(s): PMID:11053679 PMID:11320179 PMID:1236901 PMID:12369018 PMID:14678799 PMID:15037715 PMID:15522202 PMID:15637732 PMID:15733261 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16698797 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:20065251 PMID:20816175 PMID:22323514 PMID:22499106 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:27884173 PMID:28097321 PMID:28116189 PMID:28157257 PMID:28492532 PMID:28556411 PMID:29101272 PMID:30060766 PMID:30426380 PMID:31311558 PMID:31319225 PMID:32528171 PMID:32860008 PMID:34925456 PMID:34930662 PMID:35046417 PMID:35606784 PMID:9536098


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