rs1306475361, SDHD

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898 2010
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898 2010
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898 2010
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. 19075037 2009
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. 19075037 2009
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. 19075037 2009
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 18551016 2008
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 18551016 2008
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 18551016 2008
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment. 12509798 2003
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment. 12509798 2003
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment. 12509798 2003
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. 12114404 2002
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. 12114404 2002
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. 12114404 2002
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 CausalMutation CLINVAR