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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking LOC126806490 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 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:11039864 (Homo sapiens)
  • 4 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 0 papers in RGD have been used to annotate LOC126806490
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:26708751 PMID:28492532


    • An association has been curated linking LOC126806490 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 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:155710137 (Homo sapiens)
  • 4 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 0 papers in RGD have been used to annotate LOC126806490
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:25741868


    • An association has been curated linking LOC126806490 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 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:15097582|RGD:15150620|RGD:152074053|RGD:156234779 (Homo sapiens) & RGD:15097582|RGD:15150620|RGD:152074053|RGD:156234779 (Homo sapiens) & RGD:15097582|RGD:15150620|RGD:152074053|RGD:156234779 (Homo sapiens) & RGD:15097582|RGD:15150620|RGD:152074053|RGD:156234779 (Homo sapiens)
  • 4 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 0 papers in RGD have been used to annotate LOC126806490
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related condition
  • Original References(s): PMID:25741868 PMID:28492532


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