Mitochondria Phenome Knowledgebase

Gene Symbol GK
Ensembl ID ENSG00000198814 Entrez 2710
Gene Alias GK1; GKD Subcellular Locations Cytoplasm Mitochondria Mitochondrial-outer-membrane
Map Position Xp21.3 Subcell PMIDs 2988520 10444329
OMIM Gene 300474 Protein Complex
Swissprot ID P32189 Swissprot Description Glycerol kinase
OMIM Disease Hyperglycerolemia (GKD) [307030]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
GK 307030 Musculoskeletal-diseases musculoskeletal #8651297 #11032329
GK 307030 Bone-diseases bone dysplasia musculoskeletal 8651297 #11032329
GK 307030 Metabolic-bone-diseases musculoskeletal #11032329
GK 307030 Osteoporosis generalized osteoporosis musculoskeletal 11032329
GK 307030 Digestive-system-diseases gastrointestinal #9719371 #11032329 #11479736 #15026783 #15303806
GK 307030 Gastrointestinal-diseases gastrointestinal #15303806
GK 307030 Gastroenteritis gastrointestinal 15303806
GK 307030 Liver-diseases gastrointestinal #11479736
GK 307030 Liver-enzymes-abnormal AST elevated gastrointestinal 11479736
GK 307030 Abdominal-pain gastrointestinal 15303806
GK 307030 Diarrhea gastrointestinal 9719371
GK 307030 Vomiting episodic; episodic vomiting; exercise triggered gastrointestinal 9719371 11032329 11479736 15026783 15303806
GK 307030 Respiratory-tract-diseases respiratory #11032329 #15026783 #15303806
GK 307030 Respiration-disorders respiratory distress syndrome; complicated by pneumothorax respiratory #11032329 15026783 #15303806
GK 307030 Hyperventilation tachypnea respiratory 15303806
GK 307030 Respiratory-insufficiency episodes of apnoea; respiratory failure respiratory 11032329
GK 307030 Nervous-system-diseases neurologic #8651297 #9719371 #10851254 #11032329 #11479736 #15026783 #15303806
GK 307030 Central-nervous-system-diseases neurologic #8651297 #9719371 #10851254 #11032329 #11479736 #15303806
GK 307030 Brain-diseases neurologic #8651297 #9719371 #10851254 #11032329 #11479736 #15303806
GK 307030 Cerebrovascular-disorders neurologic #11479736
GK 307030 Intracranial-hemorrhages subarachnoid hemorrhage neurologic 11479736
GK 307030 Seizures generalized seizures; convulsions; hypoglycemia related; infection related neurologic 8651297 9719371 10851254 11032329 11479736 15303806
GK 307030 Headache-disorders headache; hypglycemia related neurologic 15303806
GK 307030 Neurologic-manifestations neurologic #8651297 #9719371 #10851254 #11032329 #11479736 #15026783 #15303806
GK 307030 Neurobehavioral-manifestations neurologic #8651297 #9719371 #10851254 #11032329 #11479736 #15026783 #15303806
GK 307030 Consciousness-disorders acidotic; stupor; coma; somnolence; hypoglycemia related; hypoglycaemic coma neurologic 10851254 11032329 15303806
GK 307030 Mental-retardation low average IQ score neurologic 8651297 11479736 15026783
GK 307030 Developmental-delay psychomotor retardation neurologic 8651297 11032329 11479736
GK 307030 Psychomotor-agitation attention deficit; hyperactivity neurologic 9719371 15026783
GK 307030 Irritability irritable; sweaty and irritable before breakfast neurologic 10851254
GK 307030 Lethargy neurologic 9719371 11032329 11479736
GK 307030 Neuromuscular-manifestations neurologic #9719371 #11032329 #11479736 #15026783
GK 307030 Muscle-spasticity mild asymmetric spasticity; spasticity neurologic 15026783
GK 307030 Muscle-hypotonia axial hypotonia; hypotonia neurologic 9719371 11032329 11479736
GK 307030 Eye-diseases ophthalmologic #9719371 #11032329 #15026783
GK 307030 Ocular-motility-disorders ophthalmologic #9719371 #11032329 #15026783
GK 307030 Strabismus convergent; mild strabismus; nonparalytic esotropia ophthalmologic 9719371 11032329 15026783
GK 307030 Myopia ophthalmologic 15026783
GK 307030 Genitourinary-diseases genitourinary #9719371 #11032329 #11479736
GK 307030 Urogenital-abnormalities genitourinary #9719371 #11032329
GK 307030 Cryptorchidism external genitalia abnormal; cryptorchidism; microphallus genitourinary 9719371 11032329
GK 307030 Urologic-diseases genitourinary #11479736
GK 307030 Kidney-diseases genitourinary #11479736
GK 307030 Renal-insufficiency proteinuria; hyperproteinuria genitourinary 11479736
GK 307030 Cardiovascular-diseases cardiovascular #11032329 #11479736 #16025401
GK 307030 Cardiorespiratory-arrest respiratory failure; heart failure cardiovascular 11032329
GK 307030 Vascular-diseases cardiovascular #11479736 #16025401
GK 307030 Arteriosclerosis severe generalized arteriosclerosis cardiovascular 16025401
GK 307030 Hypertension several risk factors; GKD; smoking; fasting glucose levels elevated; hypertensive cardiovascular 11479736 16025401
GK 307030 Myocardial-ischemia myocardial infarction cardiovascular 11479736 16025401
GK 307030 Skin-diseases dermatologic #10851254 #15303806
GK 307030 Sweat-gland-diseases dermatologic #10851254 #15303806
GK 307030 Hyperhidrosis profusely sweating; hypoglycemia related; sweaty and irritable before breakfast; sweaty dermatologic 10851254 15303806
GK 307030 Paleness pale dermatologic 15303806
GK 307030 Metabolic-diseases metabolic #9719371 #10736265 #10851254 #11032329 #11479736 #12636049 #15026783 #15303806 #16025401
GK 307030 Acid-base-imbalance metabolic #9719371 #11032329 #11479736 #12636049 #15026783 #15303806
GK 307030 Acidosis metabolic acidosis; ketoacidosis metabolic 9719371 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 Metabolic-brain-diseases metabolic #11032329 #16025401
GK 307030 Reye-like-symptoms reye syndrome like metabolic 11032329 16025401
GK 307030 Glucose-metabolism-disorders metabolic #9719371 #10736265 #10851254 #11032329 #11479736 #12636049 #15026783 #15303806 #16025401
GK 307030 Diabetes-mellitus criteria of either DM or IGT; impaired glucose tolerance; elevated fasting insulin values; insulin resistant metabolic 10736265
GK 307030 Hyperglycemia fasting glucose levels elevated metabolic 10736265 11479736 16025401
GK 307030 Hypoglycemia episodic; exercise triggered; hyperketotic hypoglycemia metabolic 9719371 10851254 11032329 11479736 12636049 15026783 15303806
GK 307030 Water-electrolyte-imbalance metabolic #15303806
GK 307030 Hyponatremia serum sodium concentration decreased metabolic 15303806
GK 307030 Obesity higher body mass index; higher waist circumference; total body fat increased; abdominal obesity; body fat accumulation; overweight metabolic 10736265 11479736
GK 307030 Fatty-acids-abnormal free fatty acids elevated; FFA elevated; increased fasting plasma FFA metabolic 10736265
GK 307030 Organic-acids-abnormal ketonuria; glyceroluria; massive glyceroluria; hyperglyceroluria metabolic 9719371 #10736265 10851254 11479736 12636049 15026783 15303806 #16025401
GK 307030 Hyperglycerolemia glyceroluria; hyperglycerolemia; pseudohypertriglyceridaemia; hypertriglyceridaemia; falsely elevated triglycerides; persistent hypertriglyceridemia; hyperglycerolaemia; dysglycerolemic metabolic 9719371 10736265 10851254 11479736 12636049 15026783 15303806 16025401
GK 307030 Immune-system-diseases immunologic #9719371 #15303806
GK 307030 Infections intercurrent; intercurrent illness; infection triggered disease; respiratory tract infections immunologic 9719371 15303806
GK 307030 Body-temperature-changes miscellaneous #9719371 #11032329
GK 307030 Fever miscellaneous 9719371 11032329
GK 307030 Hypothermia hypoglycaemia symptoms such as hypothermia miscellaneous 11032329
GK 307030 Exercise-intolerance physical exercise intolerance miscellaneous 15303806
GK 307030 Growth-disorders miscellaneous #8651297 #9719371
GK 307030 Growth-deficiency miscellaneous 8651297 9719371
GK 307030 Dysmorphism-and-abnormalities square face; frontal bossing; low set ears; dysmorphic ears; hypoplastic thumb; facial dysmorphism miscellaneous 9719371 11032329 15026783
GK 307030 Odors acetone; during fasting miscellaneous 15303806
GK 307030 Creatine-kinase-abnormal elevated miscellaneous 11479736

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