Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 26173966

2016
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 26259135

2015
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863

2015
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors. 22955521

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors. 23174939

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. 21752896

2011
dbSNP: rs142441643
rs142441643
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. 21505157

2011