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GENE - TERM ANNOTATION REPORT

19 Annotations Found.

An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10401454 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:24033266


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8569063 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:18553553


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8558213 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:19006206


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:405727629 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 PMID:21931868 PMID:25741868


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Schoner K, etal., Pediatr Dev Pathol. 2012 Jan-Feb;15(1):50-7. doi: 10.2350/11-04-1020-OA.1. Epub 2011 Jun 28.
  • 2 additional annotations were made from Schoner K, etal., Pediatr Dev Pathol. 2012 Jan-Feb;15(1):50-7. doi: 10.2350/11-04-1020-OA.1. Epub 2011 Jun 28.
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Elting M, etal., Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566.
  • 9 additional annotations were made from Elting M, etal., Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566.
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: DNA:splice-site mutation:cds:IVS26+5G>A (human)


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:126744851 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:24599544 PMID:25741868 PMID:28492532


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:151235800 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:23778732 PMID:24599544 PMID:25741868


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens) & RGD:15129032|RGD:15139525|RGD:151720502|RGD:15188933|RGD:15191087|RGD:15196314|RGD:15197760|RGD:15201650|RGD:152123075|RGD:152127704|RGD:152128171|RGD:156150071|RGD:156332725|RGD:156403098|RGD:402487481|RGD:402510455|RGD:405063313|RGD:405156319|RGD:405188963|RGD:405215543|RGD:405242997 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: UBR1-related condition
  • Original References(s): PMID:28492532


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:151235799|RGD:151727454|RGD:401752243 (Homo sapiens) & RGD:151235799|RGD:151727454|RGD:401752243 (Homo sapiens) & RGD:151235799|RGD:151727454|RGD:401752243 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Ubr1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: OMIM:243800


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome 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
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:150547037 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:24599544 PMID:25741868 PMID:28492532 PMID:29178640


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8558212|RGD:8596531|RGD:8596532 (Homo sapiens) & RGD:8558212|RGD:8596531|RGD:8596532 (Homo sapiens) & RGD:8558212|RGD:8596531|RGD:8596532 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:16311597


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:40887096 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:26989884


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:156209155|RGD:405223248 (Homo sapiens) & RGD:156209155|RGD:405223248 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
  • Original References(s): PMID:24599544 PMID:28492532


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens) & RGD:11350948|RGD:11543346|RGD:11551733|RGD:11551948|RGD:13215395|RGD:15113071|RGD:15116203|RGD:15168490|RGD:15186265|RGD:155265288 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking UBR1 and Johanson-Blizzard syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens) & RGD:126737551|RGD:126744864|RGD:12913108|RGD:12913658|RGD:150444693|RGD:150484003|RGD:155643370|RGD:155798812|RGD:243051319|RGD:28890465|RGD:329847531|RGD:596927689|RGD:597709241|RGD:597709247|RGD:597709256 (Homo sapiens)
  • 2 RGD objects have been annotated to Johanson-Blizzard syndrome  (DOID:14694)
  • 8 papers in RGD have been used to annotate UBR1
  • Curation Notes: ClinVar Annotator: match by term: Johanson-Blizzard syndrome
  • Original References(s): PMID:25741868


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