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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking Nek1 and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Thiel C, etal., Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004.
  • The annotation has been inferred from sequence orthology with NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Thiel C, etal., Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004.
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human)

  • This annotation was curated on 2018-04-28 09:00:39.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from El Hokayem J, etal., J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.
  • The annotation has been inferred from sequence orthology with NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from El Hokayem J, etal., J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: DNA:missense, frameshift, nonsense mutations:cds,splice junction:

  • This annotation was curated on 2018-04-28 09:00:50.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:29068549

  • This annotation was curated on 2019-11-12 07:31:05.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:28089114, PMID:29068549

  • This annotation was curated on 2019-11-12 07:29:52.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by OMIM:263520
  • Original References(s): PMID:21211617, PMID:22499340

  • This annotation was curated on 2019-11-12 07:30:42.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by OMIM:263520

  • This annotation was curated on 2019-11-12 07:33:15.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by OMIM:263520
  • Original References(s): PMID:21211617

  • This annotation was curated on 2019-11-12 07:30:42.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by OMIM:263520
  • Original References(s): PMID:22499340

  • This annotation was curated on 2019-11-12 07:28:56.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:28492532

  • This annotation was curated on 2019-11-12 07:32:46.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(EXP) inferred from experiment]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:21211617, PMID:22499340

  • This annotation was curated on 2019-11-12 04:45:28.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:21211617, PMID:22499340, PMID:24033266, PMID:25741868, PMID:26945885, PMID:28123176, PMID:29068549

  • This annotation was curated on 2019-11-12 07:31:13.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
  • Original References(s): PMID:23757202

  • This annotation was curated on 2019-11-12 07:29:58.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:28089114, PMID:28492532

  • This annotation was curated on 2019-11-12 07:32:10.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:25741868, PMID:28089114, PMID:28492532

  • This annotation was curated on 2019-11-12 07:31:17.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:28123176

  • This annotation was curated on 2019-11-12 07:28:30.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:25492405

  • This annotation was curated on 2019-11-12 07:28:30.0 by CRRD . For more information contact us

    An association has been curated linking Nek1 and asphyxiating thoracic dystrophy 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 NEK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 40 CRRD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 10 papers in CRRD have been used to annotate Nek1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-11-12 07:27:38.0 by CRRD . For more information contact us

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