Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 GeneticVariation disease CLINVAR
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798 2001
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Repositioning the hereditary paraganglioma critical region on chromosome band 11q23. 10323245 1999
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. 12111639 2002
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 11156372 2000
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. 8981955 1997
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. 21784903 2011
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. 16103922 2005
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker disease CLINGEN Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. 21945342 2012
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 21937622 2011
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 12782822 2003
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 25695889 2015
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540 2003
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Genetic testing in head and neck paraganglioma: who, what, and why? 24436918 2013
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 11156372 2000
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 19825962 2009
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817 2002