Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

56 Annotations Found.

An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by OMIM:613490


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by OMIM:613490
  • Original References(s): PMID:19437508 PMID:21474916


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by OMIM:613490
  • Original References(s): PMID:15486938 PMID:1905728 PMID:22016686 PMID:2309708 PMID:8340361 PMID:8358043 PMID:8520784


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by OMIM:613490
  • Original References(s): PMID:2240842


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by OMIM:613490
  • Original References(s): PMID:8364536


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by OMIM:613490
  • Original References(s): PMID:14985567 PMID:1975477 PMID:3262617


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1 Antitrypsin Deficiency
  • Original References(s): PMID:14985567 PMID:1569192 PMID:3484755 PMID:3484756 PMID:412531 PMID:6604220 PMID:7706910 PMID:8182727


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zorzetto M, etal., Clin Chem. 2008 Aug;54(8):1331-8. doi: 10.1373/clinchem.2007.102798. Epub 2008 May 29.
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 additional annotations were made from Zorzetto M, etal., Clin Chem. 2008 Aug;54(8):1331-8. doi: 10.1373/clinchem.2007.102798. Epub 2008 May 29.
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: DNA:polymorphisms:cds:


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: AAT deficiency
  • Original References(s): PMID:24033266 PMID:25741868 PMID:2696185 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:9459000


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: AAT deficiency
  • Original References(s): PMID:14551891 PMID:24033266 PMID:25741868 PMID:2696185 PMID:28492532 PMID:2901226


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: AAT deficiency
  • Original References(s): PMID:2394452 PMID:24033266 PMID:25741868 PMID:2696185 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by OMIM:613490
  • Original References(s): PMID:10954248


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:3485249 PMID:17559149


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:2185272 PMID:2240842 PMID:2390072


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:2185272 PMID:2227940 PMID:2394452


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN)
  • Original References(s): PMID:14985567 PMID:2185272 PMID:2254451 PMID:2807278


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:10194472 PMID:1082356 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16608528 PMID:18565211 PMID:18566672 PMID:1889260 PMID:19956452 PMID:20301692 PMID:20981092 PMID:22426792 PMID:22933512 PMID:22975760 PMID:23632999 PMID:23837941 PMID:24033266 PMID:24055113 PMID:25454901 PMID:2567291 PMID:25741868 PMID:26141072 PMID:26672964 PMID:26831755 PMID:27465791 PMID:28492532 PMID:301355 PMID:30585791 PMID:6093867 PMID:6602622 PMID:8970361


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:21457231 PMID:2539391 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: PI Q0(BELLINGHAM)
  • Original References(s): PMID:18353624 PMID:25425243 PMID:26321041 PMID:2642408 PMID:28492532 PMID:3257351 PMID:7980208


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: PI M(HEERLEN)
  • Original References(s): PMID:10234508 PMID:14985567 PMID:18024524 PMID:25391508 PMID:25741868 PMID:26321041 PMID:27296815 PMID:2784123 PMID:28492532 PMID:3038256


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:14985567 PMID:1967187 PMID:2696185


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: PI Q0(GRANITE FALLS)
  • Original References(s): PMID:18024524 PMID:25425243 PMID:28492532 PMID:3040726


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Shen S, etal., Hum Gene Ther. 2018 Aug;29(8):861-873. doi: 10.1089/hum.2017.227. Epub 2018 Jun 22.
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 1 additional annotations were made from Shen S, etal., Hum Gene Ther. 2018 Aug;29(8):861-873. doi: 10.1089/hum.2017.227. Epub 2018 Jun 22.
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Qualifier: treatment


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:24033266 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: AAT deficiency
  • Original References(s): PMID:1552539 PMID:1969347 PMID:28492532 PMID:8499914


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:18024524 PMID:18353624 PMID:2481421 PMID:25425243 PMID:28492532 PMID:3040726


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:25425243 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: PI Q0(CARDIFF)
  • Original References(s): PMID:14767073 PMID:1504305 PMID:15744045 PMID:15949707 PMID:17906067 PMID:21474916 PMID:2240842 PMID:2606478 PMID:26321041 PMID:2696185 PMID:27296815 PMID:2787118 PMID:2831367 PMID:28492532 PMID:8364590


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:11334395 PMID:1730596 PMID:21457231 PMID:22016686 PMID:2539391 PMID:26604020 PMID:27296815 PMID:28492532 PMID:9070606


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:19280649 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:10234508 PMID:18024524 PMID:27296815 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:25425243 PMID:28492532 PMID:31307431


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:10234508 PMID:10878477 PMID:11214903 PMID:11474657 PMID:18024524 PMID:18515255 PMID:19437508 PMID:19654085 PMID:21228398 PMID:21474916 PMID:22723858 PMID:24033266 PMID:27296815 PMID:2784123 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:9635295


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: AAT deficiency
  • Original References(s): PMID:2035534 PMID:22078084 PMID:24033266 PMID:24713750 PMID:25098359 PMID:2696185 PMID:8912354


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:2227940 PMID:2394452


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:18515255


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:18515255 PMID:22723858


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:12935698 PMID:18515255


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:11524735 PMID:2185272 PMID:2696185


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:11334395 PMID:22016686 PMID:28492532 PMID:7977369 PMID:9070606


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:14985567 PMID:2696185 PMID:28492532 PMID:3527273


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: PI M(NICHINAN)
  • Original References(s): PMID:11524735 PMID:2309708 PMID:28492532 PMID:7977369


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:18515255 PMID:26321041


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:10194472 PMID:1504305 PMID:17964515 PMID:18515255 PMID:21752289 PMID:22912357 PMID:24713750 PMID:25741868 PMID:2606478 PMID:2696185 PMID:26987331 PMID:27296815 PMID:28492532 PMID:3496639


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:20453271 PMID:23907436 PMID:28492532


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:14767073 PMID:14985567 PMID:18024524 PMID:25391508 PMID:25741868 PMID:2696185 PMID:28492532 PMID:3262617 PMID:9635295


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:12034572 PMID:14522813 PMID:15115878 PMID:15454649 PMID:15978931 PMID:1608473 PMID:17964515 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18682522 PMID:1889260 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:2339709 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:25181470 PMID:25741868 PMID:2575668 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26672964 PMID:26831755 PMID:2696185 PMID:26987331 PMID:2700304 PMID:28492532 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: AAT deficiency
  • Original References(s): PMID:2254451


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:22215832 PMID:7977369


  • An association has been curated linking Serpina1 and alpha 1-antitrypsin deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SERPINA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to alpha 1-antitrypsin deficiency  (DOID:13372)
  • 56 papers in RGD have been used to annotate Serpina1
  • Curation Notes: ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
  • Original References(s): PMID:25741868


  • Go Back to source page   Continue to Ontology report