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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking UCHL1 and hereditary spastic paraplegia 79A in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 79A  (DOID:0070455)
  • 13 papers in RGD have been used to annotate UCHL1


    • An association has been curated linking UCHL1 and hereditary spastic paraplegia 79A 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:40889057 (Homo sapiens)
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 79A  (DOID:0070455)
  • 13 papers in RGD have been used to annotate UCHL1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia
  • Original References(s): PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884


    • An association has been curated linking UCHL1 and hereditary spastic paraplegia 79A 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:401828938|RGD:401946769 (Homo sapiens) & RGD:401828938|RGD:401946769 (Homo sapiens)
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 79A  (DOID:0070455)
  • 13 papers in RGD have been used to annotate UCHL1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia
  • Original References(s): PMID:25741868


    • An association has been curated linking UCHL1 and hereditary spastic paraplegia 79A 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:40890179 (Homo sapiens)
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 79A  (DOID:0070455)
  • 13 papers in RGD have been used to annotate UCHL1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia
  • Original References(s): PMID:25741868 PMID:37650884


    • An association has been curated linking UCHL1 and hereditary spastic paraplegia 79A 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:243050699|RGD:243050702 (Homo sapiens) & RGD:243050699|RGD:243050702 (Homo sapiens)
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 79A  (DOID:0070455)
  • 13 papers in RGD have been used to annotate UCHL1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia
  • Original References(s): PMID:37650884


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