Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group BEFREE We present an adolescent male with an SDH-deficient GIST and SDHC germline mutation who developed bilateral renal cysts and neck cysts, not previously described in children with this mutation. 30301441 2019
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group BEFREE SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice. 31308404 2019
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 PosttranslationalModification group BEFREE Thirty per cent are associated with SDHA germline mutation and 50% are associated with SDHC epimutation (post-zygotic promoter hypermethylation) - the hallmark of the syndromic but non-hereditary Carney triad (SDH- deficient GIST, SDH-deficient paraganglioma and pulmonary chondroma). 29239034 2018
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 AlteredExpression group BEFREE An alternate mechanism leading to GIST oncogenesis is deficiency in the succinate dehydrogenase (SDH) enzyme complex resulting from genetic or epigenetic inactivation of one of the four SDH subunit genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHX). 28768491 2017
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL. 27700540 2016
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 PosttranslationalModification group BEFREE Epigenetic inactivation of the SDHC gene is a more recently discovered phenomenon, which so far has only been described in GISTs and PPGLs from patients with Carney triad syndrome. 26652933 2016
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 AlteredExpression group BEFREE Gene expression analysis showed remarkable down-modulation of SDHC mRNA with respect to all other GIST samples, both SDHA-mutant and KIT/PDGFRA-mutant GIST. 26415883 2015
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 Biomarker group BEFREE Tissues from 16 CTr tumors (n=12), those with isolated GIST (n=1), and those with CSS caused by SDHC (n=1) and SDHD (n=2) mutations were studied by electron microscopy (EM). 25808178 2015
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3). 24758179 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group BEFREE SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest similar phenotypes, including hypermethylated epigenomic signatures, tendency to occur in pediatric patients, and lack of KIT/PDGFRA mutations. dSDH GISTs often harbor deleterious mutations in SDH subunit genes (SDHA, SDHB, SDHC, and SDHD, termed SDHx), but some are SDHx wild type (WT). 25540324 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Pheochromocytoma and paraganglioma syndromes: genetics and management update. 24523625 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*). 24423348 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group CLINVAR Functional cardiac paraganglioma associated with a rare SDHC mutation. 24402737 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group CLINVAR The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3). 24758179 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies. 24781345 2014
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 23282968 2013
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964 2013
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 Biomarker group BEFREE However, germline mutations of the genes encoding SDH subunits A, B, C or D (SDHA, SDHB, SDHC or SDHD; collectively SDHx) are also identified in GISTs. 23174939 2013
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. 23083876 2012
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. 22351710 2012
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation. 22868853 2012
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 GeneticVariation group CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.800 CausalMutation group CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012