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GENE - TERM ANNOTATION REPORT

211 Annotations Found.

An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Hoshide R, etal., J Clin Invest. 1993 May;91(5):1884-7.
  • 2 additional annotations were made from Hoshide R, etal., J Clin Invest. 1993 May;91(5):1884-7.
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: CPS I deficiency, OMIM:237300, DNA:splice-site mutation

  • This annotation was curated on 2018-06-14 11:26:07.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:8486760, PMID:17310273

  • This annotation was curated on 2020-01-07 04:53:38.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556808 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:17310273

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8690774 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:22173106, PMID:25741868

  • This annotation was curated on 2020-01-07 07:03:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13508730 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28526534

  • This annotation was curated on 2020-01-07 06:58:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13784407 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:50.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13536158 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:41.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:10056160 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13498751 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:01.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11550777 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:28.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13809624 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:03.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:10051965 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:18.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11648770 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:39.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8657536 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:18414213

  • This annotation was curated on 2020-01-07 07:01:54.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556804 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:11474210

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:10403573 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:53.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11584128 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:51.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11664137 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:30.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11648063 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:43.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11585196 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:03:02.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11548101 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:10.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556801 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:9711878

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13486473 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11582966 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:59:25.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11593934 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:28.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8659379 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:00:08.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:12840291 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:34.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11595040 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:53.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:10056162 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11594801 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:48.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11577837 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:59:20.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:10056163 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:03:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11581057 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:18.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11645289 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:20.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13490257 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:07.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11589783 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:19.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8659378 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:00:08.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11582061 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:59:37.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11664635 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:38.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11551454 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:18.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556803 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:11474210

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556800 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:8486760

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11596039 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:54.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556802 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:17310273

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11661918 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:28.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8659376 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:00:08.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11592915 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:00.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8659377 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:00:08.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13500324 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11651632 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:29.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11660147 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:23.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11598448 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:58.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11583754 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:10.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8690775 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11659148 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:38.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11592072 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:59:10.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11580808 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:40.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11579930 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:01.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11596179 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:03:16.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8568538 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:19793055

  • This annotation was curated on 2020-01-07 06:57:48.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556807 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:17310273

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11593591 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:30.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11590778 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:03:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11591348 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:25.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11653237 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:03:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11651699 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:03:09.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13465846 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:00.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11650179 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:03:18.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8556806 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:17310273

  • This annotation was curated on 2020-01-07 06:58:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:12892763 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:02.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1

  • This annotation was curated on 2020-01-08 19:57:13.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11657127 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:18666241, PMID:25741868

  • This annotation was curated on 2020-01-07 06:56:50.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13518140 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834

  • This annotation was curated on 2020-01-07 07:00:04.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11582056 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:37.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8690777 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:03:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:12912815 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13626688 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:03.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8690776 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:03:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11596429 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:12.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13527370 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:27.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:12842692 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:54.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11580616 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:44.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11580410 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:08.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:12838849 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:17.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11547695 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:01:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13626689 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:28007335, PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:03.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13483029 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834, PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:07.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13626687 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:03.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791710 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 07:00:40.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13784741 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:10.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791087 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:58:17.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13484570 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:22173106, PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13792438 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:48.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13471393 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:29.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788027 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:23.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13784667 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834

  • This annotation was curated on 2020-01-07 06:56:43.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791495 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 06:57:08.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13786393 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13787154 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 06:59:31.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788265 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:24813853

  • This annotation was curated on 2020-01-07 07:01:52.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789224 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:12655559

  • This annotation was curated on 2020-01-07 07:01:55.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13782967 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:47.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13784920 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:26.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788259 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:22575620, PMID:24813853

  • This annotation was curated on 2020-01-07 07:01:52.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788869 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:56:47.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11580773 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:15050969, PMID:15876373, PMID:9686343

  • This annotation was curated on 2020-01-07 07:02:35.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13784885 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:56:28.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788720 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:50.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13784601 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:22173106, PMID:24813853

  • This annotation was curated on 2020-01-07 06:58:09.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789922 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:12955727, PMID:16737834, PMID:22173106

  • This annotation was curated on 2020-01-07 06:59:42.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785121 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:43.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790682 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 07:00:20.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13783774 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834, PMID:20578160, PMID:9686343

  • This annotation was curated on 2020-01-07 06:57:19.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13783311 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:50.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785228 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:29.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789434 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 07:00:53.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13786435 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:22173106

  • This annotation was curated on 2020-01-07 07:01:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13782759 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:27150549

  • This annotation was curated on 2020-01-07 06:58:00.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788372 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:59:54.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791856 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:24813853

  • This annotation was curated on 2020-01-07 07:01:47.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13782535 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:44.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:8576959 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:56:26.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13782519 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 06:56:31.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790129 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:13.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788539 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:22173106

  • This annotation was curated on 2020-01-07 06:59:39.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789126 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834, PMID:27290639

  • This annotation was curated on 2020-01-07 07:01:21.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790822 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:56:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789308 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:24813853

  • This annotation was curated on 2020-01-07 06:59:56.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791925 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:26059772, PMID:26592762

  • This annotation was curated on 2020-01-07 07:00:23.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791855 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 07:01:47.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13783760 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 07:02:42.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13783086 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:13.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13787283 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28444906

  • This annotation was curated on 2020-01-07 07:01:22.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785858 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:26440671

  • This annotation was curated on 2020-01-07 07:01:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790126 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:13.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790330 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:40.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790115 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:19309799, PMID:21120950

  • This annotation was curated on 2020-01-07 07:00:55.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789842 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:22173106

  • This annotation was curated on 2020-01-07 07:01:41.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788563 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:59:56.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13786879 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:15876373, PMID:17310273, PMID:20855223, PMID:21120950, PMID:27150549, PMID:9686343

  • This annotation was curated on 2020-01-07 06:59:34.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790007 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:17.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790288 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:20578160, PMID:9686343

  • This annotation was curated on 2020-01-07 06:57:24.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13782902 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:20800523

  • This annotation was curated on 2020-01-07 06:58:03.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13786245 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:56:45.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791337 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:22.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785877 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:11.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785231 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:01.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789918 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:56:53.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13787875 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 06:56:55.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13787048 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 07:00:09.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785521 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28444906

  • This annotation was curated on 2020-01-07 07:00:47.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13783049 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 06:57:58.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13786964 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834

  • This annotation was curated on 2020-01-07 06:57:34.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789153 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 07:01:22.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13790247 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 06:56:51.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13786347 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:12655559, PMID:22173106, PMID:28526534

  • This annotation was curated on 2020-01-07 07:01:14.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13792137 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:12655559, PMID:19793055

  • This annotation was curated on 2020-01-07 07:01:47.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13783149 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834

  • This annotation was curated on 2020-01-07 06:57:36.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:10058762 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:00:20.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13789207 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:01:55.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13475404 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:27150549, PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:59.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785918 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950

  • This annotation was curated on 2020-01-07 06:56:28.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13814118 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:41.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13782387 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:20855223, PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:55.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13818199 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:00.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13785787 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:58.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13488082 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:23.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13818123 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:12.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13803953 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:57.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13803179 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:54.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13788070 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:53.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13476213 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:17310273, PMID:21120950, PMID:23649895, PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:42.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13809648 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:57.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13818434 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:40.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13810151 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:09.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11590399 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:58.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13812329 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:01.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11598359 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:18.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11350688 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:22.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11583513 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:59.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11598425 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:38.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11585994 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:44.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11593374 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:02.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11590922 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:26.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11594655 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:15.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11351028 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:18.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11579005 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:46.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11581470 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:31.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11580218 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:20.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11595689 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:23.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11590269 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:02:58.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791755 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:15617192, PMID:17310273, PMID:25741868

  • This annotation was curated on 2020-01-07 06:56:38.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14691279 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834

  • This annotation was curated on 2020-01-07 06:58:56.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14690176 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:30.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14723053 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:17.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14735756 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:57.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13791760 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834, PMID:21120950, PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:38.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14728619 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:15617192, PMID:22575620, PMID:27150549, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:41.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14690185 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I

  • This annotation was curated on 2020-01-07 07:02:55.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14724389 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:59:02.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14690184 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:16737834, PMID:21120950, PMID:23649895

  • This annotation was curated on 2020-01-07 06:57:38.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:13783011 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:12655559, PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:17.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14720623 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:19167850, PMID:22575620, PMID:28492532, PMID:28658158

  • This annotation was curated on 2020-01-07 06:58:00.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14719058 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:58.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14729742 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:43.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14713883 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:01:07.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:11589312 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:27.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14718090 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:26.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14733382 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:37.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14745228 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:16.0 by RGD . For more information contact us

    An association has been curated linking CPS1 and carbamoyl phosphate synthetase I deficiency disease 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:14708728 (Homo sapiens)
  • 1 RGD objects have been annotated to carbamoyl phosphate synthetase I deficiency disease  (DOID:9280)
  • 26 papers in RGD have been used to annotate CPS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital hyperammonemia, type I
  • Original References(s): PMID:21120950, PMID:28492532

  • This annotation was curated on 2020-01-07 06:58:22.0 by RGD . 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.