Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 GeneticVariation disease BEFREE It is now known that neurofibromatosis-1-associated GISTs are SDHB-positive, whereas Carney-Stratakis syndrome-associated GISTs are SDHB-deficient with underlying germline mutations in SDH subunits A-D. 24840526 2014
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease BEFREE WT KIT/PDGFRA/BRAF GISTs without SDHB or SDHA/SDHB expression may correspond to Carney-Stratakis dyad or Carney triad. 22948025 2013
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease GENOMICS_ENGLAND Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. 22972948 2012
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease GENOMICS_ENGLAND Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. 22972948 2012
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease BEFREE All GISTs from patients with Carney-Stratakis syndrome and Carney triad were negative for SDHB immunohistochemically. 20890271 2011
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 GeneticVariation disease BEFREE Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl were found to have mutations in the SDHB (9) or SDHD (2) genes; one patient was found to have the Carney-Stratakis syndrome (CSS), and his PGL was discovered during surgery for gastrointestinal stromal tumor. 20418362 2010
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease BEFREE This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations. 19522821 2009
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 GeneticVariation disease BEFREE Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. 17667967 2008
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 GermlineCausalMutation disease ORPHANET We investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively). 17667967 2008
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease CTD_human
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease GENOMICS_ENGLAND