rs80338844, SDHD

N. diseases: 10
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 25695889 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Genetic testing in head and neck paraganglioma: who, what, and why? 24436918 2013
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 21937622 2011
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR SDH mutations in patients affected by paraganglioma syndromes: a personal experience. 17102085 2006
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540 2003
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817 2002
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 11156372 2000