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

GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Gnas and ACTH-independent macronodular adrenal hyperplasia 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Fragoso MC, etal., J Clin Endocrinol Metab. 2003 May;88(5):2147-51.
  • The annotation has been inferred from sequence orthology with GNAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Fragoso MC, etal., J Clin Endocrinol Metab. 2003 May;88(5):2147-51.
  • 3 RGD objects have been annotated to ACTH-independent macronodular adrenal hyperplasia 1  (DOID:0111623)
  • 80 papers in RGD have been used to annotate Gnas
  • Curation Notes: DNA:missense mutations:exon:p.R201S, p.R201H (human)


  • An association has been curated linking Gnas and ACTH-independent macronodular adrenal hyperplasia 1 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 GNAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to ACTH-independent macronodular adrenal hyperplasia 1  (DOID:0111623)
  • 80 papers in RGD have been used to annotate Gnas
  • Curation Notes: ClinVar Annotator: match by OMIM:219080
  • Original References(s): PMID:12727968 PMID:8766942 PMID:9267696


  • An association has been curated linking Gnas and ACTH-independent macronodular adrenal hyperplasia 1 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 GNAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to ACTH-independent macronodular adrenal hyperplasia 1  (DOID:0111623)
  • 80 papers in RGD have been used to annotate Gnas


  • An association has been curated linking Gnas and ACTH-independent macronodular adrenal hyperplasia 1 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 GNAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to ACTH-independent macronodular adrenal hyperplasia 1  (DOID:0111623)
  • 80 papers in RGD have been used to annotate Gnas
  • Curation Notes: ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
  • Original References(s): PMID:12727968 PMID:12970318 PMID:15126527 PMID:1594625 PMID:16507630 PMID:1944469 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:2549426 PMID:26619011 PMID:3720010


  • An association has been curated linking Gnas and ACTH-independent macronodular adrenal hyperplasia 1 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 GNAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to ACTH-independent macronodular adrenal hyperplasia 1  (DOID:0111623)
  • 80 papers in RGD have been used to annotate Gnas
  • Curation Notes: ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
  • Original References(s): PMID:12970318 PMID:15126527 PMID:16507630 PMID:1944469 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:2549426 PMID:26619011 PMID:7739708 PMID:8766942 PMID:9626141


  • Go Back to source page   Continue to Ontology report