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GENE - TERM ANNOTATION REPORT

35 Annotations Found.

An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290


  • An association has been curated linking Cep290 and Meckel syndrome 4 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Frank V, etal., Hum Mutat. 2008 Jan;29(1):45-52.
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Frank V, etal., Hum Mutat. 2008 Jan;29(1):45-52.
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:frameshift mutation:exon:c.5489del (human)


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:611134
  • Original References(s): PMID:17705300


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:17345604 PMID:25741868 PMID:28492532 PMID:29588463


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:611134
  • Original References(s): PMID:19466712


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:611134
  • Original References(s): PMID:17564974


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:611134
  • Original References(s): PMID:17345604 PMID:17564974


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:25741868 PMID:26092869


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:17564974 PMID:19466712 PMID:20690115 PMID:21866095 PMID:25377065 PMID:26667666 PMID:28492532 PMID:28559085


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:20683928 PMID:20690115 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29398085


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:611134


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:21068128 PMID:23351400 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:19466712 PMID:20690115 PMID:25741868 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 PMID:23027964 PMID:25741868 PMID:28492532 PMID:29398085


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:20690115 PMID:25377065 PMID:25741868 PMID:28492532 PMID:28559085


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:17564974 PMID:17705300 PMID:20690115 PMID:25377065 PMID:25525159 PMID:25741868 PMID:27894351 PMID:28492532 PMID:28559085 PMID:31680349


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16199547 PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:20690115 PMID:23847139 PMID:25377065 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28559085 PMID:29146704


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:20690115 PMID:21153841 PMID:23351400 PMID:25741868 PMID:26047050 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:16909394 PMID:17345604 PMID:20690115 PMID:23351400 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:17564974 PMID:19466712 PMID:19764032 PMID:25741868 PMID:26092869 PMID:28492532 PMID:30718709


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:25741868


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:17564967 PMID:25741868 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:24265693 PMID:25097241 PMID:25741868 PMID:26477546 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:18414213 PMID:25741868 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:25097241 PMID:25741868 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:21602930 PMID:25741868 PMID:28492532


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:28492532 PMID:30718709


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:17564967 PMID:17705300 PMID:19466712 PMID:19764032 PMID:20683928 PMID:21245082 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31734136


  • An association has been curated linking Cep290 and Meckel syndrome 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 17 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 4
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


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