OGDH, oxoglutarate dehydrogenase, 4967

N. diseases: 55; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		0.600 GeneticVariation disease ORPHANET
CUI: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		0.600 Biomarker disease CTD_human
CUI: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0149772
Disease: Abnormal salivary gland morphology
Abnormal salivary gland morphology 		0.100 Biomarker phenotype HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1843392
Disease: Death in childhood
Death in childhood 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4020902
Disease: Abnormal urine alpha-ketoglutarate concentration
Abnormal urine alpha-ketoglutarate concentration 		0.100 Biomarker disease HPO
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		0.100 Biomarker phenotype HPO
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		0.100 Biomarker disease HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 AlteredExpression disease BEFREE Alzheimer's disease (AD) is associated with a striking reduction in the activity of the alpha-ketoglutarate dehydrogenase complex (KGDHC). 9778267 1998
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE α-ketoglutarate dehydrogenase inhibition counteracts breast cancer-associated lung metastasis. 29988033 2018
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.020 Biomarker disease BEFREE Abnormality of the alpha-ketoglutarate dehydrogenase complex in fibroblasts from familial Alzheimer's disease. 8122883 1994
CUI: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016