Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT 		1.000 GermlineCausalMutation group ORPHANET In a family with multiple gastrointestinal stromal tumors and diffuse hyperplasia of myenteric plexus layer, we have identified another mutation of KIT, a single base mutation, resulting in the substitution of Glu for Lys(642) in the kinase I domain, and studied its biological effect in a cellular system. 11073817 2000
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GermlineCausalMutation group ORPHANET A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A mutations. 21997697 2011
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GermlineCausalMutation group ORPHANET Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 23282968 2013
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GermlineCausalMutation group ORPHANET Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. 23730622 2013
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GermlineCausalMutation group ORPHANET This is the first report, to our knowle dge, that identifies SDHA inactivation as a common oncogenic event in GISTs that lack a mutation in KIT and PDGFRA. 21505157 2011
Entrez Id: 3815
Gene Symbol: KIT
KIT 		1.000 CausalMutation group CGI
Entrez Id: 3815
Gene Symbol: KIT
KIT 		1.000 CausalMutation group CLINVAR Familial gastrointestinal stromal tumor syndrome: report of 2 cases with KIT exon 11 mutation. 25504284 2015
Entrez Id: 3815
Gene Symbol: KIT
KIT 		1.000 CausalMutation group CLINVAR A new familial GIST identified. 17001171 2006
Entrez Id: 3815
Gene Symbol: KIT
KIT 		1.000 CausalMutation group CLINVAR A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. 9797363 1998
Entrez Id: 3815
Gene Symbol: KIT
KIT 		1.000 CausalMutation group CLINVAR Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling. 15897563 2005
Entrez Id: 3815
Gene Symbol: KIT
KIT 		1.000 CausalMutation group CLINVAR Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor. 17943734 2008
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR [Intrapericardical paraganglioma associated with mutation in succinate dehydrogenase enzyme gene]. 24939699 2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964 2013
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. 16912137 2006
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas. 17308434 2007
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma. 20592014 2010
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Pheochromocytoma and paraganglioma syndromes: genetics and management update. 24523625 2014
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 26259135 2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 25695889 2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. 22835832 2012
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Phenotype of SDHB mutation carriers in the Netherlands. 25047027 2014
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
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: 6390
Gene Symbol: SDHB
SDHB 		0.800 CausalMutation group CLINVAR Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening? 19189136 2009