MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 GeneticVariation disease UNIPROT Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 Biomarker disease CTD_human
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 CausalMutation disease CLINVAR
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.340 GeneticVariation disease BEFREE Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. 30008476 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.340 AlteredExpression disease BEFREE ACC = adrenal cortical carcinoma; APA = aldosterone-producing adenoma; APCC = aldosterone-producing cell cluster; CAH = congenital adrenal hyperplasia; CT = computed tomography; DOTATATE = [<sup>68</sup>Ga]-DOTA(0)-Tyr(3)-octreotate; FDG = fluorodeoxyglucose; FH = fumarate hydratase; MR = miner-alocorticoid; MDH2 = malate dehydrogenase 2; PCC = pheochromocytoma; PET = positron emission tomography; PGL = paraganglioma; SCS = subclinical cortisol-secreting; SDHB = succinate dehydrogenase subunit B; TCGA = The Cancer Genome Atlas. 28332880 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.340 Biomarker disease BEFREE Disruption of the Krebs cycle is a hallmark of cancer, and MDH2 has been recently identified as a novel pheochromocytoma and paraganglioma susceptibility gene. 27989324 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.340 Biomarker disease BEFREE Segregation of the mutation with disease and absence of MDH2 in mutated tumors revealed MDH2 as a novel pheochromocytoma/paraganglioma susceptibility gene. 25766404 2015
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.340 Biomarker disease GENOMICS_ENGLAND
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.300 Biomarker disease CTD_human In vivo loss-of-function screens identify KPNB1 as a new druggable oncogene in epithelial ovarian cancer. 28811376 2017
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. 25766404 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.300 Biomarker disease RGD Adriamycin induced myocardial failure in rats: protective role of Centella asiatica. 16786185 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.300 Biomarker group CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		0.300 Biomarker phenotype CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.300 Biomarker phenotype CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker disease CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.300 Biomarker disease CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.300 Biomarker disease CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		0.300 Biomarker phenotype CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal 		0.300 Biomarker disease CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.300 Biomarker disease HPO
CUI: C1150891
Disease: peptidylamidoglycolate lyase activity
peptidylamidoglycolate lyase activity 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.210 Biomarker disease BEFREE NBP treatment significantly reduced the infarct ratio, as observed by TTC staining, decreased serum myocardial enzymes in MI, and restored heart mitochondrial enzymes (isocitrate dehydrogenase (ICDH), succinate dehydrogenase (SDH), malate dehydrogenase (MDH), and a-ketoglutarate dehydrogenase (a-KGDH) activities after MI. 28619102 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.210 Biomarker disease RGD Effect of alpha-tocopherol on mitochondrial electron transport in experimental myocardial infarction in rats. 9753871 1998