rs80338844, SDHD

N. diseases: 10
Disease: Paraganglioma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 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
0.720 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
0.720 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
0.720 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170 2010
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 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
0.720 GeneticVariation BEFREE A P81L mutation associated with abdominal and head and neck PGL was detected in three families. 17102085 2006
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 GeneticVariation UNIPROT Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 GeneticVariation BEFREE P81L and R38X mutations have previously been reported in other PGL families and P81L was suggested as a founder mutation. 11897817 2002
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 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
0.720 GeneticVariation UNIPROT Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.720 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
0.720 GeneticVariation UNIPROT Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000