Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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C | 0.700 | CausalMutation | CLINVAR | Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. | 26096992 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. | 22241717 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. | 21945342 | 2012 |
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C | 0.700 | CausalMutation | 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 |
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C | 0.700 | CausalMutation | CLINVAR | Genetics of pheochromocytoma and paraganglioma in Spanish patients. | 19258401 | 2009 |
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C | 0.700 | CausalMutation | CLINVAR | The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. | 19454582 | 2009 |
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C | 0.700 | CausalMutation | CLINVAR | A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. | 17406045 | 2007 |
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C | 0.700 | CausalMutation | CLINVAR | Novel SDHD germ-line mutations in pheochromocytoma patients. | 17576205 | 2007 |
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C | 0.700 | CausalMutation | CLINVAR | Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. | 15066320 | 2004 |
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C | 0.700 | CausalMutation | CLINVAR | Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? | 12782822 | 2003 |
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C | 0.700 | CausalMutation | CLINVAR | Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. | 11391796 | 2001 |