Showing entry for NADH-ubiquinone oxidoreductase chain 1



                       
General Target Information
BXGT IdBXGT006108
Protein NameNADH-ubiquinone oxidoreductase chain 1
Uniport IdP03886
GeneMT-ND1
Gene Id4535
DomainNADHdh
Pfam PF00146  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.2 Energy metabolism hsa00190 Oxidative phosphorylation
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
5. Organismal Systems 5.10 Environmental adaptation hsa04714 Thermogenesis
5. Organismal Systems 5.6 Nervous system hsa04723 Retrograde endocannabinoid signaling
6. Human Diseases 6.4 Neurodegenerative diseases hsa05012 Parkinson disease
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0009060 aerobic respiration
Biological Process GO:0006120 mitochondrial electron transport, NADH to ubiquinone
Biological Process GO:0032981 mitochondrial respiratory chain complex I assembly
Biological Process GO:0042493 response to drug
Biological Process GO:0033194 response to hydroperoxide
Biological Process GO:0014070 response to organic cyclic compound
molecular function GO:0008137 NADH dehydrogenase (ubiquinone) activity
cellular component GO:0030425 dendrite
cellular component GO:0016021 integral component of membrane
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0031966 mitochondrial membrane
cellular component GO:0005747 mitochondrial respiratory chain complex I
cellular component GO:0043025 neuronal cell body
Reactome
Pathway Id Pathway Name
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000737 BXGD000005 Abdominal Pain Pathological Conditions, Signs and Symptoms
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0001403 BXGD000048 Addison Disease Immune System Diseases; Endocrine System Diseases
C0002152 BXGD000104 Alloxan Diabetes Nutritional and Metabolic Diseases; Endocrine System Diseases
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0003123 BXGD000178 Anorexia Pathological Conditions, Signs and Symptoms
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003486 BXGD000197 Aortic Aneurysm Cardiovascular Diseases
C0003537 BXGD000208 Aphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006625 BXGD000401 Cachexia Pathological Conditions, Signs and Symptoms
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0008489 BXGD000546 Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009024 BXGD000578 Clonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009225 BXGD000594 Coenuriasis Infections
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0010709 BXGD000689 Cyst Pathological Conditions, Signs and Symptoms; Neoplasms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011853 BXGD000752 Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011854 BXGD000753 Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013384 BXGD000826 Dyskinetic syndrome Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0015930 BXGD001025 Fetal Distress Pathological Conditions, Signs and Symptoms
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0018021 BXGD001162 Goiter Endocrine System Diseases
C0018524 BXGD001200 Hallucinations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018794 BXGD001222 Heart Block Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018979 BXGD001260 Hemianopsia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0018989 BXGD001263 Hemiparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020438 BXGD001382 Hypercalciuria Pathological Conditions, Signs and Symptoms
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020550 BXGD001429 Hyperthyroidism Endocrine System Diseases
C0020578 BXGD001434 Hyperventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0020626 BXGD001452 Hypoparathyroidism Endocrine System Diseases
C0020672 BXGD001461 Hypothermia, natural Pathological Conditions, Signs and Symptoms
C0020676 BXGD001462 Hypothyroidism Endocrine System Diseases
C0020757 BXGD001466 Ichthyoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0021843 BXGD001520 Intestinal Obstruction Digestive System Diseases
C0022578 BXGD001557 Keratoconus Eye Diseases
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023976 BXGD001724 Long QT Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0024408 BXGD001768 Machado-Joseph Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0024523 BXGD001781 Malabsorption Syndrome Digestive System Diseases; Nutritional and Metabolic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027498 BXGD001994 Nausea and vomiting Pathological Conditions, Signs and Symptoms
C0027726 BXGD002030 Nephrotic Syndrome Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0028077 BXGD002069 Nyctalopia Eye Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029132 BXGD002117 Disorder of the optic nerve Eye Diseases; Nervous System Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030305 BXGD002206 Pancreatitis Digestive System Diseases
C0030554 BXGD002239 Paresthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0032915 BXGD002380 Preexcitation Syndrome Cardiovascular Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033687 BXGD002415 Proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0034012 BXGD002449 Delayed Puberty Endocrine System Diseases
C0034065 BXGD002454 Pulmonary Embolism Respiratory Tract Diseases; Cardiovascular Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038433 BXGD002754 Streptozotocin Diabetes Nutritional and Metabolic Diseases; Endocrine System Diseases
C0038644 BXGD002776 Sudden infant death syndrome Pathological Conditions, Signs and Symptoms
C0040147 BXGD002847 Thyroiditis Endocrine System Diseases
C0040250 BXGD002853 Tinea Capitis Infections; Skin and Connective Tissue Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0043202 BXGD003037 Wolff-Parkinson-White Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0085207 BXGD003140 Gestational Diabetes Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0085298 BXGD003155 Sudden Cardiac Death Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0149793 BXGD003366 Amaurosis Fugax Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0149931 BXGD003388 Migraine Disorders Nervous System Diseases
C0151313 BXGD003413 Sensory neuropathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152020 BXGD003519 Gastroparesis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0152025 BXGD003521 Polyneuropathy Nervous System Diseases
C0152191 BXGD003556 Scotoma, Central Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0154835 BXGD003748 Retinal telangiectasia Cardiovascular Diseases
C0155305 BXGD003785 Optic Neuropathy, Ischemic Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
C0162670 BXGD003970 Mitochondrial Myopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0162671 BXGD003971 MELAS Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0205642 BXGD004094 Adenocarcinoma, Oxyphilic Neoplasms
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0234378 BXGD004661 Static Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234428 BXGD004666 Disturbance of consciousness
C0238111 BXGD004877 Lennox-Gastaut syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0242698 BXGD005189 Ventricular Dysfunction, Left Cardiovascular Diseases
C0262361 BXGD005229 Growth abnormality
C0268630 BXGD006016 Hyper-beta-alaninemia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0268731 BXGD006029 Renal glomerular disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0270685 BXGD006084 Cerebral calcification Nutritional and Metabolic Diseases; Nervous System Diseases
C0270922 BXGD006134 Peripheral demyelinating neuropathy Immune System Diseases; Nervous System Diseases
C0271196 BXGD006171 Scotoma, Centrocecal Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0338451 BXGD007176 Frontotemporal dementia Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C0338614 BXGD007208 Psychotic episodes Mental Disorders
C0340643 BXGD007357 Dissection of aorta Cardiovascular Diseases
C0342776 BXGD007546 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
C0344232 BXGD007659 Blurred vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0376480 BXGD007998 Gingival Overgrowth Stomatognathic Diseases
C0393593 BXGD008103 Dystonia Disorders Nervous System Diseases
C0410000 BXGD008406 Overlap syndrome Skin and Connective Tissue Diseases; Immune System Diseases
C0424448 BXGD008529 Mask-like facies Nervous System Diseases
C0452138 BXGD008831 Sensorineural hearing loss, bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0476397 BXGD008991 Electroretinogram abnormal
C0476403 BXGD008992 Electromyogram abnormal
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0522214 BXGD009196 Abnormal visual evoked potential Nervous System Diseases
C0541764 BXGD009259 Delayed bone age
C0541794 BXGD009262 Skeletal muscle atrophy
C0542476 BXGD009276 Forgetful Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0559106 BXGD009465 Ventricular preexcitation Pathological Conditions, Signs and Symptoms
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0745730 BXGD010132 Multiple lipomata Neoplasms
C0751401 BXGD010427 Ophthalmoparesis Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0917796 BXGD011408 Optic Atrophy, Hereditary, Leber Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0917798 BXGD011409 Cerebral Ischemia Nervous System Diseases; Cardiovascular Diseases
C1112256 BXGD011655 Sensorimotor neuropathy
C1167918 BXGD011779 Increased CSF lactate
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1445953 BXGD013080 Poor eye contact Mental Disorders
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1557375 BXGD013360 Blurred Vision, CTCAE
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1697453 BXGD013507 Spontaneous hematomas
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836735 BXGD014155 hypopigmented skin patch Skin and Connective Tissue Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837249 BXGD014210 Malformations of Cortical Development, Group II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1837397 BXGD014227 Severe global developmental delay
C1838979 BXGD014349 MITOCHONDRIAL COMPLEX I DEFICIENCY Nutritional and Metabolic Diseases
C1838990 BXGD014350 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
C1838993 BXGD014351 Episodic vomiting Pathological Conditions, Signs and Symptoms
C1839040 BXGD014354 LEBER OPTIC ATROPHY AND DYSTONIA Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C1839532 BXGD014382 Low plasma citrulline
C1839603 BXGD014388 Proximal tubulopathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1842820 BXGD014538 Cardiac conduction abnormality
C1843077 BXGD014553 Segmental peripheral demyelination/remyelination
C1843156 BXGD014561 Progressive sensorineural hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1844945 BXGD014698 Episodic respiratory distress
C1847515 BXGD014869 Paroxysmal involuntary eye movements
C1849211 BXGD015023 Generalized hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1849488 BXGD015058 Increased serum pyruvate
C1853141 BXGD015307 Slow decrease in visual acuity
C1855285 BXGD015483 Protruding ear
C1856507 BXGD015614 Bulbar signs
C1857287 BXGD015692 Stroke-like episode Nervous System Diseases; Cardiovascular Diseases
C1857640 BXGD015726 Decreased nerve conduction velocity
C1860475 BXGD015985 Retinal vascular tortuosity
C1860834 BXGD016006 Infantile muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861403 BXGD016045 Variable expressivity
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1963165 BXGD016685 Malabsorption, CTCAE
C1963167 BXGD016686 Memory Impairment, CTCAE 3.0
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2674608 BXGD017250 Feeding difficulties in infancy
C2677650 BXGD017382 Decreased activity of mitochondrial complex I
C2751582 BXGD017726 Mitochondrial respiratory chain defects
C2919142 BXGD017867 Short Stature, CTCAE
C2931092 BXGD017955 Maternally Inherited Leigh Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C3275417 BXGD018663 Ragged-red muscle fibers
C3278923 BXGD018748 Dilated ventricles (finding)
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3502298 BXGD019043 Lactic Acidosis, Fatal Infantile Nutritional and Metabolic Diseases
C3665346 BXGD019278 Unspecified visual loss Pathological Conditions, Signs and Symptoms; Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665386 BXGD019284 Abnormal vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714745 BXGD019427 Malabsorption Digestive System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3810365 BXGD019652 Central visual impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887709 BXGD019918 Optic Neuropathy Eye Diseases; Nervous System Diseases
C3887898 BXGD019926 Infantile Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4021546 BXGD020663 Abnormal mitochondria in muscle tissue
C4021569 BXGD020677 Central retinal vessel vascular tortuosity
C4021734 BXGD020742 Abnormality of mitochondrial metabolism
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4021795 BXGD020785 Abnormality of Krebs cycle metabolism
C4022012 BXGD020868 Death in early adulthood
C4022013 BXGD020869 Multiple glomerular cysts
C4022748 BXGD020979 Focal T2 hyperintense brainstem lesion
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4025585 BXGD021678 Lacticaciduria Nutritional and Metabolic Diseases
C4025732 BXGD021764 Tubulointerstitial abnormality
C4025821 BXGD021809 Anterior hypopituitarism Nervous System Diseases; Endocrine System Diseases
C4048268 BXGD021896 Cortical visual impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4520679 BXGD023033 Abnormal macular morphology Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4521256 BXGD023058 Glomerulopathy Assessment
C4531122 BXGD023190 Abnormal speech prosody
C4551472 BXGD023303 Hypertrophic obstructive cardiomyopathy Cardiovascular Diseases
C4551583 BXGD023361 Cerebral cortical atrophy
C4551714 BXGD023398 Rod-Cone Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C4553743 BXGD023548 Spasticity, CTCAE
C4553765 BXGD023551 Memory Impairment, CTCAE 5.0
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4722144 BXGD023790 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding)
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002953 2-Phenethyl isothiocyanate 163.24
BXGC0005989 Auraptene 298.38
BXGC0014139 R-(+)-Marmin 332.16
BXGC0015383 7-(6'r-Hydroxy-3',7'-Dimethyl-2'e,7'-Octadienyloxy)Coumarin 314.15
BXGC0031377 7-[(E,6R)-7-Chloro-6-Hydroxy-3,7-Dimethyloct-2-Enoxy]Chromen-2-One 350.13
BXGC0032047 7-[(2E)-3,7-Dimethylocta-2,6-Dienoxy]-6-Methoxychromen-2-One 328.17
BXGC0035162 Dehydromarmeline 335.19
BXGC0037648 (+)-9'-Isovaleroxylariciresinol 444.21
BXGC0039815 7-[(E,6R)-6-Hydroxy-7-Methoxy-3,7-Dimethyloct-2-Enoxy]Chromen-2-One 346.18
BXGC0045118 R-(+)-Marmin-6'-Octanoate 458.27
BXGC0045119 R-(+)-Marmin-6'-Undecanoate 500.31
BXGC0045120 R-(+)-Marmin-6'-palmitate 570.39
BXGC0045121 R-(+)-Marmin-6'-Linoleate 594.39
BXGC0045122 R-(+)-Marmin-6'-cis-vaccenoate 596.41
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein