rs80338845, SDHD

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 19584903 2010
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170 2010
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. 20816580 2010
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation BEFREE Our findings indicate that malignant SDHD-related PGL is associated with several mutations besides D92Y. 17973943 2008
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation BEFREE SDHD mutations (D92Y) are associated with malignant paragangliomas and catecholamine excess with remarkable interindividual variations despite the same mutation. 17227803 2007
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation BEFREE Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively. 11391798 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively. 11391798 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.730 GeneticVariation UNIPROT Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015