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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking OPTN and Amyotrophic Lateral Sclerosis, Autosomal Recessive in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • 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 by association of genotype and phenotype with RGD:11602778|RGD:11644930|RGD:11665401|RGD:11666021 (Homo sapiens) & RGD:11602778|RGD:11644930|RGD:11665401|RGD:11666021 (Homo sapiens) & RGD:11602778|RGD:11644930|RGD:11665401|RGD:11666021 (Homo sapiens) & RGD:11602778|RGD:11644930|RGD:11665401|RGD:11666021 (Homo sapiens)
  • 5 RGD objects have been annotated to Amyotrophic Lateral Sclerosis, Autosomal Recessive  (DOID:9009017)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive


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