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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Sdhc and Carney-Stratakis syndrome in Chinchilla lanigera.        

  • 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 SDHC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Carney-Stratakis syndrome  (DOID:0080533)
  • 2 papers in RGD have been used to annotate Sdhc


    • An association has been curated linking Sdhc and Carney-Stratakis syndrome in Chinchilla lanigera.        

  • 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 SDHC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Carney-Stratakis syndrome  (DOID:0080533)
  • 2 papers in RGD have been used to annotate Sdhc
  • Curation Notes: ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
  • Original References(s): PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19454582 PMID:21173220 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24758179 PMID:25024072 PMID:25741868 PMID:26173966 PMID:26273102 PMID:26467025 PMID:27700540 PMID:28492532 PMID:28819017 PMID:30548481 PMID:34750850 PMID:9536098


    • An association has been curated linking Sdhc and Carney-Stratakis syndrome in Chinchilla lanigera.        

  • 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 SDHC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Carney-Stratakis syndrome  (DOID:0080533)
  • 2 papers in RGD have been used to annotate Sdhc
  • Curation Notes: ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
  • Original References(s): PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19351833 PMID:19454582 PMID:19546167 PMID:21106325 PMID:21173220 PMID:22703879 PMID:22868853 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25741868 PMID:26173966 PMID:26273102 PMID:26467025 PMID:27279923 PMID:27700540 PMID:28412079 PMID:28492532 PMID:28819017 PMID:29878124 PMID:30050099 PMID:30548481 PMID:30583724 PMID:31194233 PMID:33748650 PMID:34558728 PMID:34750850 PMID:35441217 PMID:9536098


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