Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:26708753


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Perez Y, etal., J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6.
  • The annotation has been inferred from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Perez Y, etal., J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6.
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:26708751


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:26545877


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by OMIM:616801


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:24033266 PMID:26708751 PMID:26708753


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • 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 Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:25741868 PMID:30167850


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:30167850


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:25741868 PMID:28708303 PMID:30167850


  • An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  (DOID:9000999)
  • 8 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • Original References(s): PMID:25741868 PMID:28492532


  • Go Back to source page   Continue to Ontology report