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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking PSEN2 and Alzheimer's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lippa CF, etal., Ann Neurol. 2000 Sep;48(3):376-9.
  • 3 additional annotations were made from Lippa CF, etal., Ann Neurol. 2000 Sep;48(3):376-9.
  • 755 RGD objects have been annotated to Alzheimer's disease  (DOID:10652)
  • 13 papers in RGD have been used to annotate PSEN2
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:cds:p.N141I (human)


    • An association has been curated linking PSEN2 and Alzheimer's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Clark RF, etal., Cold Spring Harb Symp Quant Biol 1996;61:551-8.
  • 2 additional annotations were made from Clark RF, etal., Cold Spring Harb Symp Quant Biol 1996;61:551-8.
  • 755 RGD objects have been annotated to Alzheimer's disease  (DOID:10652)
  • 13 papers in RGD have been used to annotate PSEN2
  • Curation Notes: DNA:missense mutations:cds:p.N141I, p.M239V (human)


    • An association has been curated linking PSEN2 and Alzheimer's disease 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:8598088 (Homo sapiens)
  • 755 RGD objects have been annotated to Alzheimer's disease  (DOID:10652)
  • 13 papers in RGD have been used to annotate PSEN2
  • Curation Notes: ClinVar Annotator: match by term: Alzheimer's disease
  • Original References(s): PMID:14623725 PMID:15663477 PMID:17186461 PMID:17345043 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25937274 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:28492532 PMID:30045758 PMID:32032730 PMID:32917274


    • An association has been curated linking PSEN2 and Alzheimer's disease in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 755 RGD objects have been annotated to Alzheimer's disease  (DOID:10652)
  • 13 papers in RGD have been used to annotate PSEN2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9050898 PMID:12925374 PMID:16651627


    • An association has been curated linking PSEN2 and Alzheimer's disease 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:8644535 (Homo sapiens)
  • 755 RGD objects have been annotated to Alzheimer's disease  (DOID:10652)
  • 13 papers in RGD have been used to annotate PSEN2
  • Curation Notes: ClinVar Annotator: match by term: Alzheimer disease
  • Original References(s): PMID:15130954 PMID:15663477 PMID:16474849 PMID:17914065 PMID:18667258 PMID:19768372 PMID:20194882 PMID:21409510 PMID:22221884 PMID:22312439 PMID:22475797 PMID:22503161 PMID:23383383 PMID:23861362 PMID:23990795 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26410308 PMID:26467025 PMID:28492532 PMID:30279455 PMID:31914229 PMID:32087291 PMID:32345996 PMID:32917274 PMID:9384602


    • An association has been curated linking PSEN2 and Alzheimer's disease 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:8598083 (Homo sapiens)
  • 755 RGD objects have been annotated to Alzheimer's disease  (DOID:10652)
  • 13 papers in RGD have been used to annotate PSEN2
  • Curation Notes: ClinVar Annotator: match by term: Alzheimer disease
  • Original References(s): PMID:11723295 PMID:15663477 PMID:23861362 PMID:25104557 PMID:26836416 PMID:28492532 PMID:32087291


    • An association has been curated linking PSEN2 and Alzheimer's disease 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:11592530|RGD:11666293 (Homo sapiens) & RGD:11592530|RGD:11666293 (Homo sapiens)
  • 755 RGD objects have been annotated to Alzheimer's disease  (DOID:10652)
  • 13 papers in RGD have been used to annotate PSEN2
  • Curation Notes: ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease


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