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GENE - TERM ANNOTATION REPORT

31 Annotations Found.

An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Yamamoto T and Nanba E, Hum Mutat 1999 Aug 19;14(2):182.
  • The annotation has been inferred from sequence orthology with PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yamamoto T and Nanba E, Hum Mutat 1999 Aug 19;14(2):182.
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: DNA:missense mutation:cds:p.A246T (human)


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hudson LD J Child Neurol 2003 Sep;18(9):616-24.
  • The annotation has been inferred from sequence orthology with PLP1 (Homo sapiens) [(TAS) traceable author statement]
  • 1 additional annotations were made from Hudson LD J Child Neurol 2003 Sep;18(9):616-24.
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:1707231


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:1376966


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:12910435, PMID:24088041, PMID:26633545


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:1384324


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:1605230, PMID:19396823


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:2480601


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:7573159


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:11071483


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:1715570


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18571143


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:1720927


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:11071483, PMID:7574457


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by OMIM:312080
  • Original References(s): PMID:12605435, PMID:16380909, PMID:8659540, PMID:9633722, PMID:9634530


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
  • Original References(s): PMID:11071483, PMID:18835559


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
  • Original References(s): PMID:27535533, PMID:8723686


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
  • Original References(s): PMID:8786077


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
  • Original References(s): PMID:7683951


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
  • Original References(s): PMID:8696336, PMID:9482656


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:25741868


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:25326635, PMID:25741868


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:2773936


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:2480601, PMID:25326635, PMID:25741868


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:2479017, PMID:3827224


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
  • Original References(s): PMID:28492532, PMID:9056547


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:20301361, PMID:26125040


  • An association has been curated linking Plp1 and Pelizaeus-Merzbacher disease 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 PLP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Pelizaeus-Merzbacher disease  (DOID:3210)
  • 22 papers in CRRD have been used to annotate Plp1
  • Curation Notes: ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
  • Original References(s): PMID:25491635, PMID:25741868, PMID:29451896


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.