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GENE - TERM ANNOTATION REPORT

29 Annotations Found.

An association has been curated linking NPHP4 and nephronophthisis 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Otto E, etal., Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.
  • 2 additional annotations were made from Otto E, etal., Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multiple

  • This annotation was curated on 2018-04-28 09:00:34.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:12907480 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12205563, PMID:25741868

  • This annotation was curated on 2019-12-03 05:57:21.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13516446 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4

  • This annotation was curated on 2019-12-03 05:56:57.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:11348531 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868, PMID:28492532, PMID:29127258

  • This annotation was curated on 2019-12-03 05:57:01.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Hoefele J, etal., Am J Kidney Dis. 2004 Feb;43(2):358-64.
  • 2 additional annotations were made from Hoefele J, etal., Am J Kidney Dis. 2004 Feb;43(2):358-64.
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: DNA:nonsense mutation: :3272del (human)

  • This annotation was curated on 2018-04-28 09:03:11.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26.
  • 8 additional annotations were made from Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26.
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: DNA:nonsense mutations, duplications:exon:multiple

  • This annotation was curated on 2018-04-28 09:03:11.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13519251 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:15776426, PMID:21546380, PMID:25741868, PMID:26346198, PMID:28492532

  • This annotation was curated on 2019-12-03 05:55:51.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:11593445 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-12-03 05:55:15.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:11579760 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-12-03 05:55:10.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:10051583 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:15776426, PMID:21068128, PMID:21546380, PMID:22550138, PMID:24033266, PMID:25741868

  • This annotation was curated on 2019-12-03 06:00:48.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13606287 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-12-03 06:01:15.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:9693130 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-12-03 05:56:57.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13515330 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4

  • This annotation was curated on 2019-12-03 05:55:28.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:11642490 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-12-03 05:56:20.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:8557397 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12244321

  • This annotation was curated on 2019-12-03 05:59:12.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:8596118 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12244321

  • This annotation was curated on 2019-12-03 05:59:38.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:8596115 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12244321

  • This annotation was curated on 2019-12-03 05:59:38.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:8596117 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12244321, PMID:25558065

  • This annotation was curated on 2019-12-03 05:59:38.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:11585752 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12205563

  • This annotation was curated on 2019-12-03 05:58:46.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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 nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4

  • This annotation was curated on 2019-12-04 19:57:07.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:8596116 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12244321, PMID:15776426, PMID:28492532

  • This annotation was curated on 2019-12-03 05:59:38.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:8596120 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:12205563, PMID:1248184

  • This annotation was curated on 2019-12-03 05:59:38.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13516928 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-12-03 05:55:17.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:11637376 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-12-03 06:01:27.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13516813 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-12-03 05:55:36.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13523370 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-12-03 05:55:53.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:14693428 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:15776426

  • This annotation was curated on 2019-12-03 06:00:44.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:10051694 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-12-03 06:01:03.0 by CRRD . For more information contact us

    An association has been curated linking NPHP4 and nephronophthisis 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:13516136 (Homo sapiens)
  • 1 CRRD objects have been annotated to nephronophthisis 4  (DOID:0111115)
  • 11 papers in CRRD have been used to annotate NPHP4
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis 4
  • Original References(s): PMID:28492532

  • This annotation was curated on 2019-12-03 05:56:37.0 by CRRD . For more information contact us

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