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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking L1CAM and Intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Vits L, etal., Nat Genet. 1994 Jul;7(3):408-13.
  • 6 additional annotations were made from Vits L, etal., Nat Genet. 1994 Jul;7(3):408-13.
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Curation Notes: DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel


    • An association has been curated linking L1CAM and Intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Jouet M, etal., Nat Genet. 1994 Jul;7(3):402-7.
  • 6 additional annotations were made from Jouet M, etal., Nat Genet. 1994 Jul;7(3):402-7.
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Curation Notes: DNA:snps:cds:multiple


    • An association has been curated linking L1CAM and Intellectual disability 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:40814182 (Homo sapiens)
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Curation Notes: ClinVar Annotator: match by term: Intellectual disability
  • Original References(s): PMID:25741868


    • An association has been curated linking L1CAM and Intellectual disability 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:40814184 (Homo sapiens)
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Curation Notes: ClinVar Annotator: match by term: Intellectual disability
  • Original References(s): PMID:25741868


    • An association has been curated linking L1CAM and Intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Original References(s): OMIM:303350


    • An association has been curated linking L1CAM and Intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Original References(s): ORPHA:1497


    • An association has been curated linking L1CAM and Intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Original References(s): OMIM:307000


    • An association has been curated linking L1CAM and Intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Original References(s): ORPHA:2466


    • An association has been curated linking L1CAM and Intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 3747 RGD objects have been annotated to Intellectual disability  (HP:0001249)
  • 35 papers in RGD have been used to annotate L1CAM
  • Original References(s): OMIM:304100


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