Mitochondria Phenome Knowledgebase

Phenotypic Feature Hypoglycemia finds 66 Gene-Feature associations that are associated with 52 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Hypoglycemia severe hypoglycemia metabolic 1945557 2000272 4022672
ACADM 201450 Hypoglycemia hypoglycemic shock; hypoglycaemia metabolic 2246856 2279505 2380628 7929823 11346377 11349232 11486912 12897989
ACADM 201450 Hypoketosis hypoketotic hypoglycemia metabolic 11349232 11486912
ACADS 201470 Hypoglycemia blood sugar decreased; plasma glucagon elevated; hypoglycaemia metabolic 3571488 11134486 12061367
ACADSB 610006 Hypoglycemia metabolic 10832746 16317551
ACADVL 201475 Hypoglycemia hypoketotic hypoglycemia metabolic 7479827 7494405 9498103 11433098 11524729 16488171
ACADVL 201475 Hypoketosis hypoketotic hypoglycemia metabolic 7479827 7494405 9498103 11433098 11524729
ACAT1 203750 Hypoglycemia severe hypoglycemia metabolic 11914035 15877211
AUH 250950 Hypoglycemia epsisodic metabolic 3082934 9762598
BCS1L 124000 Hypoglycemia De Toni Fanconi Debre syndrome metabolic 11528392 12910490
BCS1L 603358 Hypoglycemia hypoglycaemic metabolic 7577396 9482441
COX10 220110 Hypoglycemia metabolic 12928484
CPOX 121300 Hypoglycemia metabolic 11739202
CPT1A 255120 Hypoglycemia aketotic; hypoketotic hypoglycemia; episodes; fasting related episodes metabolic 9691089 10625081 11286380 11350182 11441142 12111367 12189492 15669684 16146704
CPT2 600649 Hypoglycemia hypoketotic; nonketotic metabolic 1528846 1999498 8682496 11389301 12410208
CYP11A1 201710 Hypoglycemia metabolic 15507506 16705068
DBT 248600 Hypoglycemia metabolic 9621512
DGUOK 251880 Hypoglycemia metabolic 11687800 12205643 12210798 15883261 15887277 15964659 16263314
DLD 248600 Hypoglycemia recurrent; episodes metabolic 413089 8652022 8968745 9540846 10448086 12925875 14765544
DLST 203740 Hypoglycemia hypoglycaemia metabolic 8295396
DMPK 160900 Hypoglycemia severe hypoglycemia metabolic 11455309
ETFA 231680 Hypoglycemia hypoketotic hypoglycemia metabolic 1430199 7912128 12486872 12815589 16510302
ETFB 231680 Hypoglycemia nonketotic hypoglycemia metabolic 7912128 12706375 12815589
ETFDH 231680 Hypoglycemia episodes; hypoketotic hypoglycemia metabolic 7912128 10356148 12359134 12815589 15662686
GCDH 231670 Hypoglycemia fasting hypoglycemia; nonketotic hypoglycemia metabolic 7564239 11825066 12888985 16377226
GCK 602485 Consciousness-disorders unconsciousness; hypoglycemia related neurologic 9435328 11916951
GCK 602485 Hypoglycemia hyperinsulinemic; hypoglycemia during fasting metabolic 9435328 11916951 15277402
GK 307030 Consciousness-disorders acidotic; stupor; coma; somnolence; hypoglycemia related; hypoglycaemic coma neurologic 10851254 11032329 15303806
GK 307030 Hyperhidrosis profusely sweating; hypoglycemia related; sweaty and irritable before breakfast; sweaty dermatologic 10851254 15303806
GK 307030 Hypoglycemia episodic; exercise triggered; hyperketotic hypoglycemia metabolic 9719371 10851254 11032329 11479736 12636049 15026783 15303806
GK 307030 Ketosis hyperketonemia; gluconeogenesis decreased; underutilization of ketone bodies; hyperketotic hypoglycemia; ketonuria; ketonuric metabolic 11032329 11479736 12636049 15026783
GK 307030 Seizures generalized seizures; convulsions; hypoglycemia related; infection related neurologic 8651297 9719371 10851254 11032329 11479736 15303806
GLUD1 606762 Fatty-acids-abnormal low free fatty acids; hypoglycemia related; suppressed concentrations of plasma free fatty acids metabolic 9108870 10871207 11297618 15517495
GLUD1 606762 Hypoglycemia attacks of symptomatic hypoglycemia; persistent hypoglycemia; leucine mediated; leucine sensitive; hypoglycemic episodes metabolic 8769351 9108870 9571255 10636977 10871207 11214910 11297618 11518822 14967154 15517495 16151898
HADH 231530 Hypoglycemia episodes; hypoketotic; hyperinsulinemic metabolic 10347277 11489939 14641012 14693719 16176262
HADHA 609015 Hypoglycemia hypoketotic hypoglycemia metabolic 7738175 8865274 9739053 10352164 10400133 11855930 14630990
HADHA 609015 Seizures hypoglycemia triggered; multifocal seizures neurologic 11855930 12971428 14630990
HADHA 609016 Hypoglycemia transient; neonatal; hypoketotic hypoglycemia metabolic 7846063 8094173 8736409 8931405 9003853 9403664 10352164 11855930 12162610 14605499
HADHB 609015 Hypoglycemia recurrent; infantile; hypoketotic hypoglycemia; hypoglycaemia metabolic 12548384 12754706 15243991 15617873
HADHB 609015 Hypoketosis hypoketotic hypoglycemia; deficient fasting ketogenesis metabolic 9305349 12548384 12754706 12838198 16423905
HLCS 253270 Hypoglycemia ketotic hypoglycemia metabolic 9686819 12124727
HLCS 253270 Ketosis ketoacidosis; ketonuria; ketotic hypoglycemia metabolic 2515377 8541348 9686819 10190325 11185745 12124727
HMGCL 246450 Hypoglycemia nonketotic metabolic 1886403 3128690 8440722 9439591 9463337 11129331 11461194 15308132
HMGCS2 605911 Consciousness-disorders semicomatose; coma; hypoglycemia related neurologic 9337379 11479731 12072887
HMGCS2 605911 Hypoglycemia hypoketotic hypoglycemia metabolic 9337379 9727719 11228257 11479731 12072887 12647205
HSD17B10 300438 Hypoglycemia severe hypoglycemia metabolic 11102558 16148061
HSD3B2 201810 Hypoglycemia hypoglycemia during neonatal period metabolic 10770215 10843183
IVD 243500 Hypoglycemia metabolic 16602101
MCCC1 210200 Hypoglycemia metabolic 2738779 10485305 11170888
MCCC2 210210 Hypoglycemia metabolic 9537490 11170888 11181649 15877210
MLYCD 248360 Hypoglycemia metabolic 3709568 9177981 10417274 12955715
MPV17 251880 Hypoglycemia dietary control of hypoglycemia metabolic 16582910
MPV17 256810 Hypoglycemia metabolic 10518083 11431741
NDUFS6 252010 Hypoglycemia metabolic 15372108
OXCT1 245050 Hypoglycemia fasting related metabolic 10964512 11757586 15669687
PC 266150 Hypoglycemia episodes metabolic 6424438 7503391 9585002 9585612
PCCB 606054 Hypoglycemia metabolic 10488817
PCK2 261650 Hypoglycemia metabolic 2044592 3089795 9657976
POLG 203700 Hypoglycemia metabolic 15689359 16177225
SCO1 220110 Hypoglycemia metabolic 11013136
SDHA 252011 Hypoglycemia blood; CSF metabolic 12794685
SLC25A13 605814 Hypoglycemia ketotic hypoglycemia metabolic 12111366 12424587 14680984 15542392
SLC25A13 605814 Ketosis ketotic hypoglycemia metabolic 15542392
SLC25A20 212138 Hypoglycemia recurrent; hypoketotic hypoglycemia metabolic 1598097 9399886 9686371 10408757 10876004 11350184 12801121 15057979 15159657 15365988
SLC25A20 212138 Hypoketosis hypoketotic hypoglycemia; hypoketonuria; prominent during periods of starvation and infection metabolic 1598097 10408757 10876004 12890396 15365988
STAR 201710 Hypoglycemia episodes metabolic 9141542 10566637 11061515 14764819 15546900 15666846 15985476 16118340
TAZ 302060 Hypoglycemia spontaneously metabolic 15098233
UQCRB 124000 Hypoglycemia episodes metabolic 12709789
WFS1 222300 Hypoglycemia hypoglycemic episodes metabolic 16442662

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons