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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking TMEM191B and DiGeorge 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:151796486 (Homo sapiens)
  • 243 RGD objects have been annotated to DiGeorge syndrome  (DOID:11198)
  • 1 papers in RGD have been used to annotate TMEM191B
  • Curation Notes: ClinVar Annotator: match by term: DiGeorge Syndrome
  • Original References(s): PMID:21921585 PMID:25516202 PMID:28492532


  • An association has been curated linking TMEM191B and DiGeorge 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:127234734 (Homo sapiens)
  • 243 RGD objects have been annotated to DiGeorge syndrome  (DOID:11198)
  • 1 papers in RGD have been used to annotate TMEM191B
  • Curation Notes: ClinVar Annotator: match by term: DiGeorge Syndrome
  • Original References(s): PMID:31690835


  • An association has been curated linking TMEM191B and DiGeorge 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:127234753 (Homo sapiens)
  • 243 RGD objects have been annotated to DiGeorge syndrome  (DOID:11198)
  • 1 papers in RGD have been used to annotate TMEM191B
  • Curation Notes: ClinVar Annotator: match by term: DiGeorge Syndrome
  • Original References(s): PMID:31690835


  • An association has been curated linking TMEM191B and DiGeorge 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:127240024 (Homo sapiens)
  • 243 RGD objects have been annotated to DiGeorge syndrome  (DOID:11198)
  • 1 papers in RGD have been used to annotate TMEM191B
  • Curation Notes: ClinVar Annotator: match by term: DiGeorge syndrome
  • Original References(s): PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509


  • An association has been curated linking TMEM191B and DiGeorge 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:21404924 (Homo sapiens)
  • 243 RGD objects have been annotated to DiGeorge syndrome  (DOID:11198)
  • 1 papers in RGD have been used to annotate TMEM191B
  • Curation Notes: ClinVar Annotator: match by term: DiGeorge sequence
  • Original References(s): PMID:32581362


  • An association has been curated linking TMEM191B and DiGeorge 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:329349407 (Homo sapiens)
  • 243 RGD objects have been annotated to DiGeorge syndrome  (DOID:11198)
  • 1 papers in RGD have been used to annotate TMEM191B
  • Curation Notes: ClinVar Annotator: match by term: 22q11.2 deletion syndrome


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