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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking CEP128 and congenital nongoitrous hypothyroidism 1 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:8597116 (Homo sapiens)
  • 4 RGD objects have been annotated to congenital nongoitrous hypothyroidism 1  (DOID:0070126)
  • 2 papers in RGD have been used to annotate CEP128
  • Curation Notes: ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
  • Original References(s): PMID:10037069 PMID:17062880 PMID:1955520 PMID:24728327 PMID:25741868 PMID:28492532 PMID:9385128


    • An association has been curated linking CEP128 and congenital nongoitrous hypothyroidism 1 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:28882451 (Homo sapiens)
  • 4 RGD objects have been annotated to congenital nongoitrous hypothyroidism 1  (DOID:0070126)
  • 2 papers in RGD have been used to annotate CEP128
  • Curation Notes: ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
  • Original References(s): PMID:16060907 PMID:17705697 PMID:18727713 PMID:21186955 PMID:21642385 PMID:28492532 PMID:30372544 PMID:32368696


    • An association has been curated linking CEP128 and congenital nongoitrous hypothyroidism 1 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:11614542|RGD:11648946|RGD:28877797|RGD:28877803 (Homo sapiens) & RGD:11614542|RGD:11648946|RGD:28877797|RGD:28877803 (Homo sapiens) & RGD:11614542|RGD:11648946|RGD:28877797|RGD:28877803 (Homo sapiens) & RGD:11614542|RGD:11648946|RGD:28877797|RGD:28877803 (Homo sapiens)
  • 4 RGD objects have been annotated to congenital nongoitrous hypothyroidism 1  (DOID:0070126)
  • 2 papers in RGD have been used to annotate CEP128
  • Curation Notes: ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1


    • An association has been curated linking CEP128 and congenital nongoitrous hypothyroidism 1 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:8688587 (Homo sapiens)
  • 4 RGD objects have been annotated to congenital nongoitrous hypothyroidism 1  (DOID:0070126)
  • 2 papers in RGD have been used to annotate CEP128
  • Curation Notes: ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
  • Original References(s): PMID:24728327 PMID:25741868 PMID:28492532


    • An association has been curated linking CEP128 and congenital nongoitrous hypothyroidism 1 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:8597128 (Homo sapiens)
  • 4 RGD objects have been annotated to congenital nongoitrous hypothyroidism 1  (DOID:0070126)
  • 2 papers in RGD have been used to annotate CEP128
  • Curation Notes: ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
  • Original References(s): PMID:12050212 PMID:16117192 PMID:19417038 PMID:25741868 PMID:34780050 PMID:8954020 PMID:8964822


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