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 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 CausalMutation disease CLINVAR The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. 22456618 2012
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. 26096992 2015
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 CausalMutation disease CLINVAR 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 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 CausalMutation disease CLINVAR Novel SDHD germ-line mutations in pheochromocytoma patients. 17576205 2007
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR 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 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 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 17406045 2007
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 CausalMutation disease CLINVAR Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? 21792967 2011