Send us a Message



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

GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Hspd1 and hypomyelinating leukodystrophy 4 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with HSPD1 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 4  (DOID:0060789)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18571143


  • An association has been curated linking Hspd1 and hypomyelinating leukodystrophy 4 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Magen D, etal., Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19.
  • The annotation has been inferred from sequence orthology with HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Magen D, etal., Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19.
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 4  (DOID:0060789)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: DNA:mutation:exon: g.1512A>G(p.D29G)(human)


  • An association has been curated linking Hspd1 and hypomyelinating leukodystrophy 4 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 HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 4  (DOID:0060789)
  • 73 papers in RGD have been used to annotate Hspd1


  • An association has been curated linking Hspd1 and hypomyelinating leukodystrophy 4 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 HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 4  (DOID:0060789)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
  • Original References(s): PMID:18571143 PMID:27405012


  • An association has been curated linking Hspd1 and hypomyelinating leukodystrophy 4 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 HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 4  (DOID:0060789)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Hspd1 and hypomyelinating leukodystrophy 4 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 HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 4  (DOID:0060789)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4


  • An association has been curated linking Hspd1 and hypomyelinating leukodystrophy 4 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 HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 4  (DOID:0060789)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
  • Original References(s): PMID:25741868


  • Go Back to source page   Continue to Ontology report