Source: UNIPROT ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.730 GeneticVariation disease UNIPROT Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS) and/or leukodystrophy. 24781757 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.730 GeneticVariation disease UNIPROT Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566 2000
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.730 GeneticVariation disease UNIPROT Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341 1995
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
0.700 GeneticVariation disease UNIPROT SDHA is a tumor suppressor gene causing paraganglioma. 20484225 2010
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
0.700 GeneticVariation disease UNIPROT
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG
0.600 GeneticVariation disease UNIPROT Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 20551992 2010