Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		0.760 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		0.760 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.720 Biomarker GENOMICS_ENGLAND A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905

2015
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.720 Biomarker GENOMICS_ENGLAND Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. 24367056

2014
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.720 Biomarker GENOMICS_ENGLAND Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. 22972948

2012
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0349535
Disease: Carcinoid tumor of intestine
Carcinoid tumor of intestine 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0349535
Disease: Carcinoid tumor of intestine
Carcinoid tumor of intestine 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		0.300 Biomarker GENOMICS_ENGLAND