Mitochondria Phenome Knowledgebase

Phenotypic Feature TCA-intermediates-elevated finds 17 Gene-Feature associations that are associated with 17 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ATPAF2 604273 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated; increased urinary fumarate metabolic 14757859
BCS1L 124000 TCA-intermediates-elevated accumulation of krebs cycle intermediates in urine metabolic 11528392 12910490
COX10 220110 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated metabolic 10767350
DLD 248600 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated; alpha ketoglutarate elevated; alpha ketoglutaric aciduria metabolic 413089 3769994 6897145 8968745 11687750 12925875 15712224
DLST 203740 TCA-intermediates-elevated 2 oxoglutaric aciduria metabolic 7075624 8295396 10774994
FH 606812 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated; fumaric aciduria metabolic 1432428 2515378 8200987 15221078 16151915
GLUD1 606762 TCA-intermediates-elevated alpha ketoglutarate aciduria; urinary ketoglutarate metabolic 11518822 14967154
MLYCD 248360 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated metabolic 3709568
NDUFS4 252010 TCA-intermediates-elevated alpha ketoglutarate elevated; alpha ketoglutarate aciduria metabolic 14765537
OGDH 203740 TCA-intermediates-elevated 2 oxoglutaric aciduria metabolic 7075624 10774994
PDHA1 312170 TCA-intermediates-elevated 2 ketoglutaric acid elevated metabolic 10486093
PDHX 245349 TCA-intermediates-elevated metabolic 15303005
SCO1 220110 TCA-intermediates-elevated metabolic 11013136
SDHA 252011 TCA-intermediates-elevated increase of Krebs cycle intermediates; elevated tricarboxylic acid cycle intermediates metabolic 12794685
SLC25A15 238970 TCA-intermediates-elevated increase of Krebs cycle intermediates; elevated tricarboxylic acid cycle intermediates metabolic 14759633
SLC25A19 607196 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated; 2 oxoglutaric acid elevated; alpha ketoglutarate elevated metabolic 12185364 12376931
SURF1 220110 TCA-intermediates-elevated elevated tricarboxylic acid cycle intermediates; 2 oxoglutaric aciduria metabolic 15214016

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