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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pla2g6 and neurodegeneration with brain iron accumulation 2A 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 PLA2G6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to neurodegeneration with brain iron accumulation 2A  (DOID:0110735)
  • 39 papers in RGD have been used to annotate Pla2g6


  • An association has been curated linking Pla2g6 and neurodegeneration with brain iron accumulation 2A in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zhang P, etal., Eur J Neurol. 2013 Feb;20(2):322-30. doi: 10.1111/j.1468-1331.2012.03856.x. Epub 2012 Aug 31.
  • The annotation has been inferred from sequence orthology with PLA2G6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Zhang P, etal., Eur J Neurol. 2013 Feb;20(2):322-30. doi: 10.1111/j.1468-1331.2012.03856.x. Epub 2012 Aug 31.
  • 1 RGD objects have been annotated to neurodegeneration with brain iron accumulation 2A  (DOID:0110735)
  • 39 papers in RGD have been used to annotate Pla2g6
  • Curation Notes: DNA:deletions, missense mutations, nonsense mutation: exon:multiple


  • An association has been curated linking Pla2g6 and neurodegeneration with brain iron accumulation 2A 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 PLA2G6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to neurodegeneration with brain iron accumulation 2A  (DOID:0110735)
  • 39 papers in RGD have been used to annotate Pla2g6
  • Curation Notes: ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
  • Original References(s): PMID:16783378 PMID:17033970 PMID:17576681 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:20186954 PMID:20226704 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22934738 PMID:23182313 PMID:23685560 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24745848 PMID:25164370 PMID:25174650 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25660576 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26633545 PMID:26668131 PMID:27081553 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27378808 PMID:27395053 PMID:27516098 PMID:27709683 PMID:27942883 PMID:28150298 PMID:28295203 PMID:28492532 PMID:28716262 PMID:28821231 PMID:29124790 PMID:29159939 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29913018 PMID:30042723 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:30619057 PMID:31493945 PMID:31506141 PMID:31516627 PMID:32404165 PMID:32860008 PMID:33361639 PMID:33547378 PMID:9536098


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