Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 21937622 2011
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. 15235042 2004
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498 2013
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 11156372 2000
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 GeneticVariation disease CLINVAR Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 22025150 2011
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077 2013
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. 12114404 2002
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449 2015
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Carotid body paraganglioma and SDHD mutation in a Greek family. 16080474 2005
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? 21792967 2011
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation. 19072999 2009
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 25275255 2014
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. 17973943 2008
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 12782822 2003
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 CausalMutation disease CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease CTD_human
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 GENOMICS_ENGLAND
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.760 Biomarker disease GENOMICS_ENGLAND