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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Delvaeye M, etal., N Engl J Med. 2009 Jul 23;361(4):345-57. doi: 10.1056/NEJMoa0810739.
  • The annotation has been inferred from sequence orthology with THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Delvaeye M, etal., N Engl J Med. 2009 Jul 23;361(4):345-57. doi: 10.1056/NEJMoa0810739.
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Curation Notes: DNA:missense mutations:CDS:multiple


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Delvaeye M, etal., N Engl J Med. 2009 Jul 23;361(4):345-57. doi: 10.1056/NEJMoa0810739.
  • The annotation has been inferred from sequence orthology with THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Delvaeye M, etal., N Engl J Med. 2009 Jul 23;361(4):345-57. doi: 10.1056/NEJMoa0810739.
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Qualifier: no_association
  • Curation Notes: DNA:SNPs:5' utr, 3' utr:multiple


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Noris M, etal., Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1.
  • The annotation has been inferred from sequence orthology with THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Noris M, etal., Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1.
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Qualifier: severity


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • 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 THBD (Homo sapiens) [(EXP) inferred from experiment]
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:19625716


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • 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 THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Qualifier: susceptibility


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • 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 THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Curation Notes: ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
  • Original References(s): PMID:10460600 PMID:11245641 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532 PMID:7811989 PMID:9157575 PMID:9236408


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • 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 THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Curation Notes: ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
  • Original References(s): PMID:10460600 PMID:11245641 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:23314101 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 PMID:7811989 PMID:9157575 PMID:9236408


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • 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 THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Curation Notes: ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
  • Original References(s): PMID:10460600 PMID:11245641 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:23314101 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532 PMID:28939980 PMID:31064749 PMID:31118930 PMID:34355501 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • 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 THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Curation Notes: ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: THBD-related condition
  • Original References(s): PMID:10102456 PMID:10460600 PMID:11245641 PMID:11552992 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:20595690 PMID:23314101 PMID:23332921 PMID:24029428 PMID:24799305 PMID:24933457 PMID:25135378 PMID:25741868 PMID:27904864 PMID:28492532 PMID:28939980 PMID:31064749 PMID:31118930 PMID:32890900 PMID:32935436 PMID:34355501 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408


    • An association has been curated linking Thbd and atypical hemolytic-uremic syndrome in Mus musculus.        

  • 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 THBD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to atypical hemolytic-uremic syndrome  (DOID:0080301)
  • 80 papers in RGD have been used to annotate Thbd
  • Curation Notes: ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: THBD-related condition
  • Original References(s): PMID:10102456 PMID:10460600 PMID:11245641 PMID:11552992 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:20595690 PMID:23314101 PMID:23332921 PMID:24029428 PMID:24799305 PMID:24933457 PMID:25135378 PMID:25741868 PMID:27904864 PMID:28492532 PMID:28939980 PMID:31064749 PMID:31118930 PMID:32890900 PMID:32935436 PMID:34355501 PMID:34970867 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408


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