rs113560320, SDHAF2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 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
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 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
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170 2010
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 GeneticVariation UNIPROT Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. 20816580 2010
PARAGANGLIOMAS 2 (disorder)
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
0.800 CausalMutation CLINVAR
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas. 28099933 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas. 28099933 2017
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA. 24414418 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA. 24414418 2014
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. 21224366 2011
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. 20071235 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. 20071235 2010
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. 19628817 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. 19628817 2009
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Genetic aspects of nonchromaffin paraganglioma. 6286462 1982
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR Familial non-chromaffinic paragangliomas (glomus tumors) : clinical aspects. 6264239 1981