Mitochondria Phenome Knowledgebase

Gene Symbol TAZ
Ensembl ID ENSG00000102125 Entrez 6901
Gene Alias BTHS; CMD3A; EFE; EFE2; FLJ27390; G4.5; LVNCX; Taz1; XAP-2 Subcellular Locations Cytoplasm Membrane Mitochondria Mitochondrial-outer-membrane
Map Position Xq28 Subcell PMIDs 10407787 16135531
OMIM Gene 300394 Protein Complex
Swissprot ID Q16635 Swissprot Description Tafazzin
OMIM Disease Dilated Cardiomyopathy type 3A (CMD3A) [300069]; Isolated noncompaction of left ventricular myocardium (LVNCX) [300183]; Barth syndrome (BTHS) [302060]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
TAZ 300069 Musculoskeletal-diseases musculoskeletal #7616547 #9382096
TAZ 302060 Musculoskeletal-diseases musculoskeletal #8630491 #8739954 #9382096 #10484795 #14654353 #15098233 #15124852 #16235007
TAZ 302060 Bone-diseases musculoskeletal #15124852
TAZ 302060 Osteomyelitis staphylococcus induced osteomyelitis musculoskeletal 15124852
TAZ 300069 Foot-deformities talipes equinovarus musculoskeletal 7616547 9382096
TAZ 302060 Foot-deformities bilateral talipes musculoskeletal 15098233
TAZ 302060 Muscular-diseases skeletal myopathy; facial muscle weakness musculoskeletal 8630491 8739954 9382096 10484795 14654353 15098233 16235007
TAZ 300069 Digestive-system-diseases gastrointestinal #7616547 #9382096
TAZ 300183 Digestive-system-diseases gastrointestinal #9332651
TAZ 302060 Digestive-system-diseases gastrointestinal #10484795 #12032589 #16235007
TAZ 300183 Liver-diseases gastrointestinal #9332651
TAZ 300183 Hepatomegaly hepatic congestion; vacuolization gastrointestinal 9332651
TAZ 300069 Feeding-difficulties fed poorly gastrointestinal 7616547 9382096
TAZ 302060 Feeding-difficulties feeding problems gastrointestinal 10484795
TAZ 302060 Diarrhea gastrointestinal 10484795 12032589
TAZ 302060 Vomiting nausea gastrointestinal 16235007
TAZ 300069 Respiratory-tract-diseases respiratory #7616547 #9382096
TAZ 300183 Respiratory-tract-diseases respiratory #9332651
TAZ 302060 Respiratory-tract-diseases respiratory #15124852 #16235007
TAZ 300183 Lung-diseases respiratory #9332651
TAZ 302060 Lung-diseases respiratory #15124852
TAZ 300183 Pneumonia syncytial virus pneumonia; aspiration pneumonia respiratory 9332651
TAZ 302060 Pneumonia pneumonia related deterioration respiratory 15124852
TAZ 300183 Pulmonary-edema edema; pulmonary edema respiratory 9332651
TAZ 300069 Respiration-disorders respiratory #7616547 #9382096
TAZ 300183 Respiration-disorders hypoventilation; cyanosis; respiratory distress respiratory 9332651
TAZ 302060 Respiration-disorders cyanosis; dyspnoea; respiratory symptoms respiratory 15124852 16235007
TAZ 300183 Hyperventilation tachypnea respiratory 9332651
TAZ 300069 Respiratory-insufficiency cyanosed; periodic deeper cyanosis respiratory 7616547 9382096
TAZ 300069 Nervous-system-diseases neurologic #7616547 #9382096
TAZ 300183 Nervous-system-diseases neurologic #9332651
TAZ 302060 Nervous-system-diseases neurologic #8630491 #8739954 #10484795 #14654353 #15098233 #16235007
TAZ 302060 Central-nervous-system-diseases neurologic #16235007
TAZ 302060 Brain-diseases neurologic #16235007
TAZ 302060 Headache-disorders vasovagal symptoms; headache with normal transtelephonic monitoring neurologic 16235007
TAZ 302060 Electroencephalogram-abnormal consistent with severe hypoxic ischemic injury neurologic 16235007
TAZ 300069 Neurologic-manifestations neurologic #7616547 #9382096
TAZ 300183 Neurologic-manifestations neurologic #9332651
TAZ 302060 Neurologic-manifestations neurologic #8630491 #8739954 #10484795 #14654353 #15098233
TAZ 300069 Neurobehavioral-manifestations neurologic #7616547 #9382096
TAZ 300183 Developmental-delay delay in psychomotor development neurologic 9332651
TAZ 302060 Developmental-delay cognitive difficulties neurologic 10484795 14654353 15098233
TAZ 300069 Lethargy lethargic neurologic 7616547 9382096
TAZ 300183 Neuromuscular-manifestations neurologic #9332651
TAZ 302060 Neuromuscular-manifestations neurologic #8630491 #8739954 #10484795 #14654353 #15098233
TAZ 302060 Muscle-hypotonia neurologic 14654353
TAZ 300183 Muscle-weakness neurologic 9332651
TAZ 302060 Muscle-weakness fatigue; generalized neurologic 8630491 8739954 10484795 15098233
TAZ 302060 Muscular-atrophy moderate atrophy neurologic 15098233
TAZ 302060 Genitourinary-diseases genitourinary #14654353
TAZ 302060 Urologic-diseases genitourinary #14654353
TAZ 302060 Kidney-diseases genitourinary #14654353
TAZ 302060 Nephritis acute nephritis genitourinary 14654353
TAZ 302060 Renal-insufficiency tubulopathy; De Toni Fanconi Debre syndrome genitourinary 14654353
TAZ 300069 Cardiovascular-diseases cardiovascular #7616547 #9382096
TAZ 300183 Cardiovascular-diseases cardiovascular #9332651 #11238270
TAZ 302060 Cardiovascular-diseases cardiovascular #8630491 #8739954 #9345098 #9382096 #10484795 #11238270 #12032589 #12529714 #14654353 #15098233 #15124852 #16235007
TAZ 300069 Congenital-heart-defects tricuspid regurgitation; right to left shunt at the foramen ovale; congenital cardiomyopathy cardiovascular 7616547 9382096
TAZ 300183 Congenital-heart-defects congenital heart disease; trabeculation; noncompaction; left ventricular myocardium; ductus arteriosus; hypoplastic ventricle cardiovascular 9332651 11238270
TAZ 300069 Heart-diseases cardiovascular #7616547 #9382096
TAZ 300183 Heart-diseases cardiovascular #9332651 #11238270
TAZ 302060 Heart-diseases cardiovascular #8630491 #8739954 #9345098 #9382096 #10484795 #12032589 #12529714 #14654353 #15098233 #15124852 #16235007
TAZ 300183 Arrhythmia EKG abnormal; arrhythmias; tachycardia cardiovascular 9332651
TAZ 302060 Arrhythmia palpitations; tachycardia; arrhythmia; ventricular arrhythmia; cardiac rhythm abnormality; conduction impairment; ventricular fibrillation; tachydysrhythmias cardiovascular 12032589 16235007
TAZ 300069 Cardiomyopathy congenital; dilated; hypertrophy; left ventricular hypertrophy; endomyocardial fibroelastosis; cardiomegaly cardiovascular 7616547 9382096
TAZ 300183 Cardiomyopathy dilated; hypertrophic; cardiomegaly; endomyocardial fibroelastosis; endocardial fibroelastosis cardiovascular 9332651 11238270
TAZ 302060 Cardiomyopathy dilated cardiomyopathy; ventricular dilation; septal hypertrophy; endomyocardial fibroelastosis; endocardial fibroelastosis; cardiac murmur; intermittend systolic murmur; hypocontractility; ECG abnormal cardiovascular 8630491 8739954 9345098 9382096 10484795 12032589 12529714 14654353 15098233 15124852 16235007
TAZ 300069 Cardiorespiratory-arrest cardiac failure cardiovascular 7616547 9382096
TAZ 300183 Cardiorespiratory-arrest left ventricular; systemic embolization; heart failure cardiovascular 9332651 11238270
TAZ 302060 Cardiorespiratory-arrest heart failure; congestive heart failure; congestive; cardiac arrest; sudden infant death; rapidly fatal cardiac failure; sudden cardiac arrest; cardiac failure; sudden death; sudden collapse cardiovascular 8630491 8739954 9382096 10484795 11238270 12529714 14654353 15098233 15124852 16235007
TAZ 302060 Heart-valve-diseases atrioventricular valve insufficiency cardiovascular 15124852
TAZ 302060 Vascular-diseases cardiovascular #16235007
TAZ 302060 Embolism-and-thrombosis ventricular thrombus; cerebrovascular accident; hemiparesis cardiovascular 16235007
TAZ 300183 Hematologic-diseases hematologic #9332651 #11238270
TAZ 302060 Hematologic-diseases hematologic #8630491 #8739954 #9345098 #9382096 #10484795 #11238270 #12032589 #12529714 #14654353 #15098233 #15124852 #16235007
TAZ 302060 Bone-marrow-diseases maturation stop; promyelocyte stage; relative increase monocytes eosinophils hematologic 15098233
TAZ 300183 Leukocyte-disorders hematologic #9332651 #11238270
TAZ 302060 Leukocyte-disorders hematologic #8630491 #8739954 #9345098 #9382096 #10484795 #11238270 #12032589 #12529714 #14654353 #15098233 #15124852 #16235007
TAZ 300183 Leukopenia neutropenia hematologic 9332651 11238270
TAZ 302060 Leukopenia granulocytopenia; neutropenia; maturation arrest; cyclic neutropenia hematologic 8630491 8739954 9345098 9382096 10484795 11238270 12032589 12529714 14654353 15098233 15124852 16235007
TAZ 300183 Skin-diseases dermatologic #9332651
TAZ 302060 Skin-diseases dermatologic #16235007
TAZ 300183 Sweat-gland-diseases dermatologic #9332651
TAZ 300183 Hyperhidrosis diaphoretic; during feeding dermatologic 9332651
TAZ 300183 Paleness pale but normally perfused dermatologic 9332651
TAZ 302060 Paleness pallor dermatologic 16235007
TAZ 300183 Metabolic-diseases metabolic #11238270
TAZ 302060 Metabolic-diseases metabolic #8630491 #8739954 #9345098 #9382096 #10484795 #11238270 #12032589 #12529714 #14654353 #15098233 #15124852 #16235007
TAZ 302060 Acid-base-imbalance metabolic #8630491 #8739954 #12032589 #14654353 #15098233
TAZ 302060 Acidosis lactic acidosis; lactic acidemia metabolic 8630491 8739954 12032589 14654353 15098233
TAZ 302060 Dyslipidemias metabolic #8739954 #15098233
TAZ 302060 Hypocholesterolemia cholesterol levels decreased; plasma metabolic 8739954 15098233
TAZ 302060 Glucose-metabolism-disorders metabolic #15098233
TAZ 302060 Hypoglycemia spontaneously metabolic 15098233
TAZ 302060 Carnitine-levels-abnormal decreased total carnitine; carnitine elevated metabolic 8630491 15124852
TAZ 300183 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaconic acid elevated metabolic 11238270
TAZ 302060 Organic-acids-abnormal lactic aciduria; 3 methylglutaconic aciduria; 3 methylglutaric aciduria; 2 ethylhydracrylic aciduria metabolic 8739954 9345098 9382096 10484795 11238270 12032589 12529714 14654353 15098233 16235007
TAZ 302060 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated metabolic 12032589
TAZ 300183 Methylglutaconic-aciduria 3 methylglutaconic aciduria; 3 methylglutaconic acid elevated metabolic 11238270
TAZ 302060 Methylglutaconic-aciduria 3 methylglutaconic aciduria; 3 methylglutoconate elevated metabolic 9345098 11238270 12032589 12529714 14654353 15098233
TAZ 300183 Immune-system-diseases immunologic #9332651
TAZ 302060 Immune-system-diseases immunologic #8630491 #9345098 #12032589 #12529714 #14654353 #15098233 #15124852
TAZ 300183 Infections pneumonia; virus immunologic 9332651
TAZ 302060 Infections recurrent; infancy; early childhood; aphthous stomatitis; stomatitis; urinary tract infections; respiratory tract infections; viral infections; CMV; mastoiditis; bacterial infections; frequent infections immunologic 8630491 9345098 12032589 12529714 14654353 15098233 15124852
TAZ 300183 Body-temperature-changes miscellaneous #9332651
TAZ 302060 Body-temperature-changes miscellaneous #12032589
TAZ 300183 Fever miscellaneous 9332651
TAZ 302060 Fever miscellaneous 12032589
TAZ 302060 Exercise-intolerance fatigue; nausea; chest pain; dizziness miscellaneous 12032589 16235007
TAZ 300183 Growth-disorders miscellaneous #9332651
TAZ 302060 Growth-disorders miscellaneous #8630491 #8739954 #9382096 #10484795 #14654353 #15098233
TAZ 302060 Failure-to-thrive miscellaneous 8739954 10484795 14654353
TAZ 300183 Growth-deficiency miscellaneous 9332651
TAZ 302060 Growth-deficiency short stature miscellaneous 8630491 8739954 9382096 10484795 14654353 15098233
TAZ 300183 Mitochondria-abnormal muscle; swollen; bizarre; serpentine miscellaneous 9332651
TAZ 302060 Mitochondria-abnormal muscle; abnormal shaped mitochondria; dense bodies miscellaneous 8630491 8739954 12032589
TAZ 302060 RCCIII-deficiency fibroblasts; muscle miscellaneous 8739954 15098233
TAZ 302060 RCCIV-deficiency fibroblasts; muscle miscellaneous 8739954 15098233

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