Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.720 GeneticVariation disease BEFREE This is only the second case of mitochondrial complex II deficiency due to inherited SDHD mutations and highlights the importance of sequencing all SDH genes in patients with biochemical and histochemical evidence of isolated mitochondrial complex II deficiency. 26008905 2015
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.720 Biomarker disease 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 		0.720 GeneticVariation disease UNIPROT 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 		0.720 Biomarker disease 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 		0.720 GeneticVariation disease UNIPROT Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. 24367056 2014
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.720 GermlineCausalMutation disease ORPHANET Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. 24367056 2014
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.720 GeneticVariation disease BEFREE Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. 24367056 2014
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.720 Biomarker disease 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 		0.720 Biomarker disease CTD_human
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.720 CausalMutation disease CLINVAR
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GeneticVariation disease CLINVAR SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 28546994 2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 Biomarker disease GENOMICS_ENGLAND SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. 27683074 2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 CausalMutation disease CLINVAR SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 28546994 2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GeneticVariation disease CLINVAR Protein-mediated assembly of succinate dehydrogenase and its cofactors. 25488574 2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 CausalMutation disease CLINVAR Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 26173966 2016
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1 		0.700 Biomarker disease GENOMICS_ENGLAND Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy. 26642834 2016
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1 		0.700 GeneticVariation disease UNIPROT Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. 26749241 2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 CausalMutation disease CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 CausalMutation disease CLINVAR Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 26259135 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 CausalMutation disease CLINVAR SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 25720320 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GeneticVariation disease CLINVAR A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma. 26722403 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GeneticVariation disease CLINVAR SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.700 GeneticVariation disease CLINVAR SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 25405498 2015