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GENE - TERM ANNOTATION REPORT

44 Annotations Found.

An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

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

  • This annotation was curated on 2018-04-14 09:00:26.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633747 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:26:55.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10048080 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17345604

  • This annotation was curated on 2019-07-09 05:25:24.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8595379 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD 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:17564967, PMID:17964524, PMID:23344081, PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13515610 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:28492532

  • This annotation was curated on 2019-07-09 05:25:38.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10048661 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:21068128

  • This annotation was curated on 2019-07-09 05:25:32.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10048822 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17345604

  • This annotation was curated on 2019-07-09 05:26:03.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11623401 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-07-09 05:30:57.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617467 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
  • Original References(s): PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:21245082, PMID:25741868, PMID:28041643

  • This annotation was curated on 2019-07-09 05:27:45.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633590 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:28:00.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8595377 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
  • Original References(s): PMID:16682970, PMID:16682973, PMID:17564967, PMID:18414213, PMID:25741868, PMID:26092869, PMID:28492532

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617457 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD 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:25741868, PMID:26092869

  • This annotation was curated on 2019-07-09 05:25:20.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13474250 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:29:29.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617468 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:19466712

  • This annotation was curated on 2019-07-09 05:27:45.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8556130 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17345604, PMID:17564974

  • This annotation was curated on 2019-07-09 05:29:09.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11632527 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:26:52.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8556131 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17564974

  • This annotation was curated on 2019-07-09 05:29:09.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11345557 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD 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:28492532

  • This annotation was curated on 2019-07-09 05:27:25.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617460 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17564974

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10448747 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:25741868, PMID:26092869

  • This annotation was curated on 2019-07-09 05:31:57.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8556133 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17705300

  • This annotation was curated on 2019-07-09 05:29:09.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617463 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17564974

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8595382 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17564974

  • This annotation was curated on 2019-07-09 05:25:22.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617464 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:19466712

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10448705 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:25741868, PMID:26092869

  • This annotation was curated on 2019-07-09 05:31:52.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617462 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:19466712

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617459 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17564974

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290

  • This annotation was curated on 2019-07-10 19:57:05.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:9692774 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:26092869

  • This annotation was curated on 2019-07-09 05:29:08.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13515392 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:25:17.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13516583 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:25:51.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633959 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:29:15.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13516149 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:27:16.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633695 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-07-09 05:26:16.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11632593 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:28:16.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:9692780 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:29:09.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11582051 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-07-09 05:30:45.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10448720 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:26092869

  • This annotation was curated on 2019-07-09 05:31:53.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617458 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:21068128, PMID:28492532

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13674158 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4

  • This annotation was curated on 2019-07-09 05:26:11.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617461 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD 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:26092869, PMID:28492532

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10448757 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
  • Original References(s): PMID:25741868, PMID:26092869

  • This annotation was curated on 2019-07-09 05:31:58.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8617466 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome type 4
  • Original References(s): PMID:17345604, PMID:17564974, PMID:21602930, PMID:23027964, PMID:25741868, PMID:28492532, PMID:29398085

  • This annotation was curated on 2019-07-09 05:25:21.0 by CRRD . For more information contact us

    An association has been curated linking CEP290 and Meckel syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13610929 (Homo sapiens)
  • 1 CRRD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
  • Original References(s): PMID:21153841, PMID:23351400, PMID:25741868, PMID:26047050

  • This annotation was curated on 2019-07-09 05:28:25.0 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.