rs387906358, SDHD

N. diseases: 4
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 23902947 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 23902947 2013
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 23902947 2013
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
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. 15235042 2004
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. 15235042 2004
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. 15235042 2004
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
CUI: C3276074
Disease: PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
0.700 CausalMutation CLINVAR