Showing entry for ATP synthase subunit a


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005674
Protein NameATP synthase subunit a
Uniport IdP00846
GeneMT-ATP6
Gene Id4508
DomainATP-synt_A
Pfam PF00119  
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
6. Human Diseases 6.4 Neurodegenerative diseases hsa05010 Alzheimer disease
6. Human Diseases 6.4 Neurodegenerative diseases hsa05012 Parkinson disease
6. Human Diseases 6.4 Neurodegenerative diseases hsa05016 Huntington disease
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007568 aging
Biological Process GO:0006754 ATP biosynthetic process
Biological Process GO:0015986 ATP synthesis coupled proton transport
Biological Process GO:0042407 cristae formation
Biological Process GO:0042776 mitochondrial ATP synthesis coupled proton transport
Biological Process GO:0055093 response to hyperoxia
molecular function GO:0015078 proton transmembrane transporter activity
cellular component GO:0016021 integral component of membrane
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005753 mitochondrial proton-transporting ATP synthase complex
cellular component GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o)
Reactome
Pathway Id Pathway Name
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-8949613 Cristae formation
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001418 BXGD000050 Adenocarcinoma Neoplasms
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; 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
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004135 BXGD000257 Ataxia Telangiectasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
C0004364 BXGD000270 Autoimmune Diseases Immune System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007959 BXGD000507 Charcot-Marie-Tooth Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0008489 BXGD000546 Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous 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
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
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017661 BXGD001139 IGA Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020564 BXGD001433 Hypertrophy Pathological Conditions, Signs and Symptoms
C0020578 BXGD001434 Hyperventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0020672 BXGD001461 Hypothermia, natural Pathological Conditions, Signs and Symptoms
C0022107 BXGD001530 Irritable Mood Behavior and Behavior Mechanisms
C0022541 BXGD001550 Kearns-Sayre syndrome Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0022658 BXGD001570 Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023222 BXGD001620 Pain in lower limb
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023452 BXGD001651 Childhood Acute Lymphoblastic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026755 BXGD001926 Multiple Carboxylase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; 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
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System 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
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0032915 BXGD002380 Preexcitation Syndrome Cardiovascular Diseases
C0034935 BXGD002497 Babinski Reflex
C0035126 BXGD002509 Reperfusion Injury Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0035204 BXGD002511 Respiration Disorders Respiratory Tract Diseases
C0035242 BXGD002521 Respiratory Tract Diseases Respiratory Tract Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0037773 BXGD002704 Spastic Paraplegia, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0085215 BXGD003141 Ovarian Failure, Premature Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0085580 BXGD003191 Essential Hypertension Cardiovascular Diseases
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0149630 BXGD003334 Bicuspid aortic valve Cardiovascular Diseases
C0151313 BXGD003413 Sensory neuropathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151564 BXGD003440 Cogwheel Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; 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
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
C0162666 BXGD003967 Mitochondrial Encephalomyopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System 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
C0162672 BXGD003972 MERRF Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0220621 BXGD004300 Childhood Acute Myeloid Leukemia Neoplasms
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0234378 BXGD004661 Static Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235095 BXGD004723 Visual field constriction Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0268581 BXGD005996 Holocarboxylase Synthetase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268630 BXGD006016 Hyper-beta-alaninemia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0270790 BXGD006105 Quadriparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270921 BXGD006133 Axonal neuropathy 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
C0271650 BXGD006227 Impaired glucose tolerance Nutritional and Metabolic Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0340100 BXGD007304 High altitude pulmonary edema Respiratory Tract Diseases
C0344232 BXGD007659 Blurred vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0348898 BXGD007884 Irritable bowel syndrome with diarrhea Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0349588 BXGD007933 Short stature
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0428974 BXGD008642 Supraventricular arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0428975 BXGD008643 Supraventricular Arrhythmia by ECG Finding
C0431659 BXGD008699 Hypoplasia of scrotum
C0431904 BXGD008713 Ulnar polydactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0559106 BXGD009465 Ventricular preexcitation Pathological Conditions, Signs and Symptoms
C0575059 BXGD009510 Spastic tetraparesis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
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
C0795996 BXGD010772 STRIATONIGRAL DEGENERATION, INFANTILE (disorder) Nervous System Diseases
C0850703 BXGD010905 Frequent falls Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0854021 BXGD010990 Abnormal visual field test
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
C0948896 BXGD011563 Primary hypogonadism Endocrine System Diseases
C1112256 BXGD011655 Sensorimotor neuropathy
C1167918 BXGD011779 Increased CSF lactate
C1263857 BXGD011900 Peripheral axonal neuropathy Nervous System Diseases
C1328349 BXGD012463 Neuropathy ataxia and retinis pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1398522 BXGD013000 Cleft palate and bilateral cleft lip
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1557375 BXGD013360 Blurred Vision, CTCAE
C1698196 BXGD013513 Muscle Weakness Upper Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1708371 BXGD013600 Histiocytoid Cardiomyopathy Cardiovascular Diseases
C1720983 BXGD013698 Channelopathies Pathological Conditions, Signs and Symptoms
C1827524 BXGD013773 Wide spaced nipples
C1836296 BXGD014105 Muscle Weakness Lower Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836450 BXGD014117 Distal lower limb muscle weakness
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837251 BXGD014211 Basal ganglia cysts
C1837397 BXGD014227 Severe global developmental delay
C1838103 BXGD014296 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C1838868 BXGD014344 Corticospinal tract atrophy
C1838916 BXGD014346 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
C1838993 BXGD014351 Episodic vomiting Pathological Conditions, Signs and Symptoms
C1839022 BXGD014352 Striatonigral Degeneration, Infantile, Mitochondrial Nervous System Diseases
C1839532 BXGD014382 Low plasma citrulline
C1842820 BXGD014538 Cardiac conduction abnormality
C1843077 BXGD014553 Segmental peripheral demyelination/remyelination
C1843517 BXGD014593 Retinal arteriolar tortuosity
C1843885 BXGD014616 Progressive gait ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1843920 BXGD014619 COENZYME Q10 DEFICIENCY Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1844945 BXGD014698 Episodic respiratory distress
C1849097 BXGD015006 Loss of ability to walk
C1849134 BXGD015010 Impaired vibration sensation in the lower limbs
C1853141 BXGD015307 Slow decrease in visual acuity
C1853195 BXGD015313 Prostate Cancer, Hereditary, 7 Neoplasms; Male Urogenital Diseases
C1855483 BXGD015501 Progressive spastic paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1856507 BXGD015614 Bulbar signs
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857644 BXGD015728 Retinal pigment epithelial mottling
C1860475 BXGD015985 Retinal vascular tortuosity
C1860834 BXGD016006 Infantile muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1865794 BXGD016339 RHYNS syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases
C1866129 BXGD016375 Abnormality of the cerebellum Nervous System Diseases
C1866180 BXGD016382 Horizontal pendular nystagmus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1962966 BXGD016678 Retinopathy, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2362324 BXGD017091 Pediatric Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C2700617 BXGD017474 Irritation - emotion Behavior and Behavior Mechanisms
C2748884 BXGD017607 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
C2750915 BXGD017686 Basal ganglia gliosis Pathological Conditions, Signs and Symptoms
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
C3275417 BXGD018663 Ragged-red muscle fibers
C3275684 BXGD018673 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
C3275686 BXGD018674 CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
C3278923 BXGD018748 Dilated ventricles (finding)
C3532239 BXGD019055 Mitochondrial cardiomyopathy
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
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806442 BXGD019510 Myoclonic spasms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887640 BXGD019908 Astrocytosis Pathological Conditions, Signs and Symptoms
C3888962 BXGD019996 POLG mutation
C4016603 BXGD020350 SEIZURES AND LACTIC ACIDOSIS
C4021569 BXGD020677 Central retinal vessel vascular tortuosity
C4021570 BXGD020678 Undetectable light- and dark-adapted electroretinogram
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4021795 BXGD020785 Abnormality of Krebs cycle metabolism
C4022013 BXGD020869 Multiple glomerular cysts
C4022745 BXGD020977 Abnormal basal ganglia MRI signal intensity
C4022769 BXGD020994 Small basal ganglia
C4024610 BXGD021341 Leg muscle stiffness
C4024895 BXGD021460 Atrophy/Degeneration involving the caudate nucleus
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4025585 BXGD021678 Lacticaciduria Nutritional and Metabolic Diseases
C4225415 BXGD022271 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
C4237343 BXGD022309 Overweight or obesity
C4324304 BXGD022756 MLASA syndrome Musculoskeletal Diseases; Nervous System Diseases
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4531094 BXGD023186 Abnormal mitral valve physiology
C4531122 BXGD023190 Abnormal speech prosody
C4551583 BXGD023361 Cerebral cortical atrophy
C4551714 BXGD023398 Rod-Cone Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C4552810 BXGD023525 Irritability, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4751573 BXGD024085 Periodic paralysis with later-onset distal motor neuropathy Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C4755299 BXGD024092 MT-ATP6-related mitochondrial spastic paraplegia Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C4757950 BXGD024096 Isolated ATP synthase deficiency
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000130 Estradiol 272.38
BXGC0009332 Pelanin 356.5
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