Disease: Pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease HPO
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CGI
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease CTD_human
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR We sought to determine whether SDHD plays a role in the development of sporadic pheochromocytomas and performed a mutation and deletion analysis of SDHD. 11156372 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE We sought to determine whether SDHD plays a role in the development of sporadic pheochromocytomas and performed a mutation and deletion analysis of SDHD. 11156372 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease UNIPROT We sought to determine whether SDHD plays a role in the development of sporadic pheochromocytomas and performed a mutation and deletion analysis of SDHD. 11156372 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. 11605159 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not detected in 24 sporadic phaeochromocytoma tumours. 11323050 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations. 11404820 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE We sequenced the entire coding region of the SDHD gene in a series of pheochromocytomas. 11397905 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Germline SDHD mutation in familial phaeochromocytoma. 11323050 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE The involvement of SDHD mutations in familial phaeochromocytoma and/or paraganglioma predisposition is of considerable interest since other studies have shown these alterations to be associated with highly expressed angiogenic factors. 12111639 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. 12114404 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Tumorigenesis of NF1-associated pheochromocytomas remains unknown, as does tumor formation (i.e., carotid body tumor) in patients with germline mutations in SDHB, SDHC, and SDHD, genes that encode subunits of the mitochondrial complex II, the smallest complex in the respiratory chain. 12381538 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease UNIPROT Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. 12111639 2002