Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 GeneticVariation CLINVAR Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. 27604842

2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma. 28738844

2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR The phenotype of SDHB germline mutation carriers: a nationwide study. 28490599

2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation. 27549546

2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 GeneticVariation CLINVAR Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy. 26642834

2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 GeneticVariation CLINVAR SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery. 26719882

2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27539324

2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery. 26719882

2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. 26267327

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma. 25873086

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 25405498

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR [Intrapericardical paraganglioma associated with mutation in succinate dehydrogenase enzyme gene]. 24939699

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. 25736212

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes. 25683602

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 26259135

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Paraganglioma Presenting as Postpartum Fever of Unknown Origin. 26236513

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Structural and functional consequences of succinate dehydrogenase subunit B mutations. 25972245

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 GeneticVariation CLINVAR Structural and functional consequences of succinate dehydrogenase subunit B mutations. 25972245

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 GeneticVariation CLINVAR Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance. 26925370

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 25695889

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 GeneticVariation CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102

2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. 24694336

2014
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Pheochromocytoma and paraganglioma syndromes: genetics and management update. 24523625

2014
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR SDHB gene mutation in a carotid body paraganglioma: case report and review of the paraganglioma syndromes. 24509376

2014
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		0.710 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014