Mitochondria Phenome Knowledgebase

Phenotypic Feature Ketosis finds 39 Gene-Feature associations that are associated with 37 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADM 201450 Hypoketosis hypoketotic hypoglycemia metabolic 11349232 11486912
ACADVL 201475 Hypoketosis hypoketotic hypoglycemia metabolic 7479827 7494405 9498103 11433098 11524729
ACAT1 203750 Ketosis ketoacidotic attacks; ketonuria; ketoacidotic crisis; acetone like breath odor metabolic 1346617 7173255 8930414 9700610 10604145 11161836 11914035 12754704 15877211
BCKDHA 248600 Ketosis ketoacidosis; ketonuria; urinary ketones metabolic 1885764 2060625 2703538 8161368 12042535 14567968
BCKDHB 248600 Ketosis ketoacidosis; ketoaciduria metabolic 8161368 11448970 14567968
BCS1L 124000 Ketosis ketosis; elevated 3 0H butyrate; acetone in urine metabolic 12910490
BCS1L 124000 Acidosis lactic acidosis; ketosis; hyperlactatemia metabolic 11528392 12910490
BCS1L 603358 Ketosis hydroxybutyrate elevated; acetoacetate elevated metabolic 9482441
CPT1A 255120 Hypoketosis hypoketotic metabolic 9691089 11350182 12111367 12189492
CPT2 600649 Hypoketosis metabolic 8682496
DBT 248600 Ketosis ketoacidosis metabolic 2010537 9239422 9621512 14567968
DLD 248600 Ketosis hyperketonemia; mild; moderate; ketoacidotic crisis metabolic 3769994 12925875 15712224
DLST 203740 Hypoketosis low molecular ratios of ketone bodies; plasma metabolic 1640293 8295396
GK 307030 Ketosis hyperketonemia; gluconeogenesis decreased; underutilization of ketone bodies; hyperketotic hypoglycemia; ketonuria; ketonuric metabolic 11032329 11479736 12636049 15026783
GLUD1 606762 Hypoketosis low ketone levels; ketone levels suppressed; serum; low ketone body concentrations metabolic 9108870 11297618 15517495
HADH 231530 Ketosis hypoketonuria metabolic 10347277 11489939
HADHA 609015 Hypoketosis metabolic 12838198 14630990
HADHA 609016 Hypoketosis ketonuria; fasting induced hypoketosis metabolic 8094173 11855930 12162610
HADHB 609015 Hypoketosis hypoketotic hypoglycemia; deficient fasting ketogenesis metabolic 9305349 12548384 12754706 12838198 16423905
HLCS 253270 Ketosis ketoacidosis; ketonuria; ketotic hypoglycemia metabolic 2515377 8541348 9686819 10190325 11185745 12124727
HMGCL 246450 Hypoketosis hypoketosis; ketogenesis impaired metabolic 3128690 8440722 9439591
HMGCS2 605911 Hypoketosis ketone body synthesis impaired; ketogenesis impaired metabolic 9337379 9727719 11228257 12072887 12647205
HSD17B10 300438 Ketosis ketonuria; ketosis metabolic 11102558 15059617
IVD 243500 Acidosis lactic acidosis; ketosis; episodes; ketoacidosis metabolic 2124776 8765634 8830183 10191353 10677295 12911192 15624372 16602101
IVD 243500 Ketosis ketones elevated; ketonuria metabolic 2124776 8765634 8830183 10677295 12911192 15624372 16602101
MMAA 251100 Ketosis ketonuria; ketosis metabolic 6132336 12438653
MMAB 251110 Ketosis ketonuria; ketosis metabolic 6132336 12471062
MUT 251000 Ketosis ketonuria; ketosis; ketocidosis; episodes metabolic 9554742 10893496 11350191 12402345 15643616 16451139
NAGS 237310 Ketosis mild ketosis metabolic 9877039 12754705
OGDH 203740 Hypoketosis low molecular ratios of ketone bodies; plasma metabolic 1640293
OXCT1 245050 Ketosis ketoacidosis; ketonemia; ketonuria; permanent ketosis; episodic; ketoacidotic crisis; ketone body utilization defect metabolic 7474899 8803771 9521962 9671268 15496607 15669687
PC 266150 Ketosis ketone bodies elevated; ketonuria; urinary ketones elevated; hyperketonemia metabolic 826106 7503391 9585002 15781190 16278852 16325442
PCCA 606054 Ketosis ketoacidosis metabolic 2037281 6790853 9385377 9683601 9887338 10101253 10502773 10780784 12559849 13693094 15164333 15614906
PCCB 606054 Ketosis ketoacidosis; ketonuria; CSF; blood metabolic 2037281 6820422 9461363 9683601 10502773 10780784 10910839 12409268 12559849 15614906
SCO1 220110 Acidosis ketosis; lactic acidosis metabolic 11013136
SDHA 252011 Ketosis urinary ketones increased; ketonuria metabolic 12794685
SLC19A2 249270 Ketosis ketoacidosis; ketonuria metabolic 14994241 16373304
SLC25A13 605814 Ketosis ketotic hypoglycemia metabolic 15542392
SLC25A20 212138 Hypoketosis hypoketotic hypoglycemia; hypoketonuria; prominent during periods of starvation and infection metabolic 1598097 10408757 10876004 12890396 15365988
SURF1 220110 Acidosis ketosis; lactic acidosis; CSF; blood; metabolic acidosis; hyperlactacidemia metabolic 9837813 10647889 10746561 11409433 11955926 14557577 16222681 16225813
UQCRB 124000 Hypoketosis ketogenesis impaired metabolic 12709789

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