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GENE - TERM ANNOTATION REPORT

34 Annotations Found.

An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens) & RGD:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens) & RGD:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens) & RGD:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens) & RGD:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens) & RGD:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens) & RGD:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens) & RGD:11602787|RGD:11606596|RGD:11606951|RGD:150334430|RGD:28876602|RGD:28876960|RGD:405711299|RGD:408394635 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:25741868


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:151879392 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:17576681 PMID:21613650 PMID:28492532 PMID:9536098


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:156136341 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
  • Original References(s): PMID:20428114 PMID:25382069 PMID:25943890 PMID:28492532 PMID:30739198


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:8559765 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:11834836 PMID:11978762 PMID:12208142 PMID:15761120 PMID:16619239 PMID:25741868 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:8642933 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:17122126 PMID:20671613 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:151780444 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29525178


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11608067 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:16205626 PMID:22892313 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11548554 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:11834836 PMID:12789137 PMID:14597044 PMID:21550138 PMID:21613650 PMID:22892313 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:8559764 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:11834836 PMID:12939304 PMID:14597044 PMID:15226658 PMID:15312511 PMID:15326130 PMID:15370540 PMID:15547491 PMID:15557444 PMID:16148883 PMID:16205626 PMID:16885925 PMID:17293779 PMID:17359525 PMID:17389490 PMID:19145250 PMID:19172505 PMID:19672125 PMID:20671613 PMID:20981092 PMID:21217154 PMID:21220178 PMID:22402017 PMID:22708870 PMID:22995991 PMID:23062601 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26566915 PMID:27485216 PMID:28492532 PMID:29411640 PMID:31198474


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:10045267 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114 PMID:25741868 PMID:28492532 PMID:35896380


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:14692986 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114 PMID:28492532 PMID:29650794


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:13509018 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:28876595 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114 PMID:25741868 PMID:28492532 PMID:32579787


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11601755 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:12789137 PMID:17293779 PMID:19096531 PMID:22892313 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:41407793 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:26503823 PMID:28492532 PMID:31838784 PMID:32893042


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:13478638 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:21074290 PMID:21613650 PMID:21852022 PMID:25943890 PMID:26467025 PMID:28492532 PMID:32028661


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:14693383 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:16199547 PMID:20428114 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:13481253 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:22722621 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:14705846 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:11834836 PMID:17293779 PMID:19172505 PMID:20428114 PMID:24683533 PMID:25741868 PMID:26740678 PMID:28492532 PMID:30519240 PMID:30739198 PMID:31108397


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:8559768 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114 PMID:25741868


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11607160 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:14597044 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:28876954 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114 PMID:25681989 PMID:25741868 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:8559766|RGD:8559767 (Homo sapiens) & RGD:8559766|RGD:8559767 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:10048893|RGD:11599316 (Homo sapiens) & RGD:10048893|RGD:11599316 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:8642934 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:11834836 PMID:15326130 PMID:16358725 PMID:17293779 PMID:17615537 PMID:21613650 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:151825251 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:28492532 PMID:36133075


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11606180 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32893042 PMID:33208543 PMID:35896380


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:152153493 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:16199547 PMID:20428114 PMID:25484089 PMID:25741868 PMID:28492532 PMID:31108397


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens) & RGD:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens) & RGD:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens) & RGD:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens) & RGD:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens) & RGD:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens) & RGD:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens) & RGD:11552161|RGD:11600983|RGD:15118634|RGD:15118818|RGD:15131743|RGD:151821990|RGD:28900140|RGD:401902390 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:151713807 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:22708870 PMID:28492532 PMID:34275688


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens) & RGD:11600105|RGD:11600607|RGD:11601686|RGD:11601889|RGD:11601955|RGD:11602368|RGD:11602388|RGD:11602668|RGD:11603194|RGD:11603566|RGD:11606022|RGD:11606572|RGD:11634910|RGD:11644375|RGD:11647715|RGD:11648218|RGD:11651878|RGD:11654035|RGD:11654530|RGD:11657868|RGD:11657879|RGD:11658420|RGD:11659052|RGD:28899777|RGD:28900136|RGD:28900344|RGD:28900347|RGD:28904337|RGD:28904569|RGD:28904749|RGD:28906318|RGD:28906320|RGD:28907948|RGD:28909958|RGD:28909959 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens) & RGD:11599733|RGD:11603996|RGD:11604954|RGD:11608811|RGD:126731366|RGD:127335318|RGD:15104692|RGD:15123171|RGD:15158724|RGD:15163232|RGD:151789418|RGD:152044364|RGD:152139910|RGD:152167469|RGD:156144825|RGD:156185807|RGD:28892195|RGD:28904341|RGD:28907767|RGD:402495359 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:28492532


  • An association has been curated linking OPTN and amyotrophic lateral sclerosis type 12 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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:150546310|RGD:401906138 (Homo sapiens) & RGD:150546310|RGD:401906138 (Homo sapiens)
  • 4 RGD objects have been annotated to amyotrophic lateral sclerosis type 12  (DOID:0060203)
  • 26 papers in RGD have been used to annotate OPTN
  • Curation Notes: ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
  • Original References(s): PMID:20428114 PMID:25741868 PMID:28492532


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