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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pomgnt1 and muscular dystrophy-dystroglycanopathy 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 POMGNT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 65 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy  (DOID:0112374)
  • 16 papers in RGD have been used to annotate Pomgnt1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
  • Original References(s): PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22819665 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24282183 PMID:24731844 PMID:25390965 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29096039 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:9536098


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