Showing entry for Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT009503
Protein NameSuccinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Uniport IdP31040
GeneSDHA
Gene Id6389
DomainFAD_binding_2; Succ_DH_flav_C
Pfam PF00890   PF02910  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.1 Carbohydrate metabolism hsa00020 Citrate cycle (TCA cycle)
1. Metabolism 1.2 Energy metabolism hsa00190 Oxidative phosphorylation
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
1. Metabolism 1.0 Global and overview maps hsa01200 Carbon metabolism
5. Organismal Systems 5.10 Environmental adaptation hsa04714 Thermogenesis
6. Human Diseases 6.7 Endocrine and metabolic diseases hsa04932 Non-alcoholic fatty liver disease (NAFLD)
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:0006121 mitochondrial electron transport, succinate to ubiquinone
Biological Process GO:0007399 nervous system development
Biological Process GO:0055114 oxidation-reduction process
Biological Process GO:0022904 respiratory electron transport chain
Biological Process GO:0006105 succinate metabolic process
Biological Process GO:0006099 tricarboxylic acid cycle
molecular function GO:0009055 electron transfer activity
molecular function GO:0050660 flavin adenine dinucleotide binding
molecular function GO:0016491 oxidoreductase activity
molecular function GO:0008177 succinate dehydrogenase (ubiquinone) activity
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)
cellular component GO:0005739 mitochondrion
cellular component GO:0005730 nucleolus
Reactome
Pathway Id Pathway Name
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism
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-71403 Citric acid cycle (TCA cycle)
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003076 BXGD000171 Aniridia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0004114 BXGD000255 Astrocytoma Neoplasms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0008031 BXGD000511 Chest Pain Pathological Conditions, Signs and Symptoms
C0009375 BXGD000602 Colonic Neoplasms Digestive System Diseases; Neoplasms
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0010701 BXGD000688 Phyllodes Tumor Neoplasms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic 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
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014859 BXGD000961 Esophageal Neoplasms Digestive System Diseases; Neoplasms
C0015230 BXGD000969 Exanthema Skin and Connective Tissue Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue 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
C0016382 BXGD001054 Flushing Pathological Conditions, Signs and Symptoms
C0017181 BXGD001103 Gastrointestinal Hemorrhage Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0017639 BXGD001133 Gliosis Pathological Conditions, Signs and Symptoms
C0017658 BXGD001138 Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018965 BXGD001258 Hematuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020437 BXGD001381 Hypercalcemia Nutritional and Metabolic Diseases
C0020555 BXGD001431 Hypertrichosis Skin and Connective Tissue Diseases
C0021843 BXGD001520 Intestinal Obstruction Digestive System Diseases
C0022107 BXGD001530 Irritable Mood Behavior and Behavior Mechanisms
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023787 BXGD001698 Lipodystrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025267 BXGD001845 Multiple Endocrine Neoplasia Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine 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
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027497 BXGD001993 Nausea Pathological Conditions, Signs and Symptoms
C0027498 BXGD001994 Nausea and vomiting Pathological Conditions, Signs and Symptoms
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027672 BXGD002020 Neoplastic Syndromes, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030232 BXGD002197 Pallor Pathological Conditions, Signs and Symptoms
C0030252 BXGD002199 Palpitations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0030421 BXGD002218 Paraganglioma Neoplasms
C0030422 BXGD002219 Extra-Adrenal Paraganglioma Neoplasms
C0031511 BXGD002304 Pheochromocytoma Neoplasms
C0033375 BXGD002405 Prolactinoma Neoplasms; Nervous System Diseases; Endocrine System 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
C0034885 BXGD002490 Rectal Neoplasms Digestive System Diseases; Neoplasms
C0034935 BXGD002497 Babinski Reflex
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
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
C0037771 BXGD002702 Paraparesis, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0039239 BXGD002803 Sinus Tachycardia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042928 BXGD003014 Vocal Cord Paralysis Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0086743 BXGD003308 Osteoarthrosis Deformans Musculoskeletal Diseases
C0086769 BXGD003310 Panic Attacks Mental Disorders
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152132 BXGD003547 Hypertensive Retinopathy Eye Diseases; Cardiovascular Diseases
C0156181 BXGD003841 Peritoneal adhesion Digestive System Diseases; Skin and Connective Tissue Diseases
C0162292 BXGD003930 External Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0178664 BXGD004032 Glomerulosclerosis (disorder) Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0206695 BXGD004246 Carcinoma, Neuroendocrine Neoplasms
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0235833 BXGD004775 Congenital diaphragmatic hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0238198 BXGD004893 Gastrointestinal Stromal Tumors Digestive System Diseases; Neoplasms
C0240116 BXGD005020 Hyperactive patellar reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0242363 BXGD005156 Islet Cell Tumor Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0242698 BXGD005189 Ventricular Dysfunction, Left Cardiovascular Diseases
C0278701 BXGD006566 Gastric Adenocarcinoma Digestive System Diseases; Neoplasms
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0334416 BXGD007062 Parasympathetic paraganglioma Neoplasms
C0334583 BXGD007124 Pilocytic Astrocytoma Neoplasms
C0338474 BXGD007183 Central nervous system demyelination
C0338508 BXGD007196 Optic Atrophy 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0340427 BXGD007329 Familial dilated cardiomyopathy Cardiovascular Diseases
C0342777 BXGD007547 Succinate-coenzyme Q reductase deficiency
C0345832 BXGD007742 Neoplasm of small intestine Digestive System Diseases; Neoplasms
C0349588 BXGD007933 Short stature
C0375362 BXGD007976 Peritoneal adhesions (postoperative) (postinfection)
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0423640 BXGD008494 Right Flank Pain Pathological Conditions, Signs and Symptoms
C0424230 BXGD008522 Motor retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0424551 BXGD008533 Impaired exercise tolerance
C0427515 BXGD008619 Neutrophil abnormality
C0454641 BXGD008848 Expressive language delay
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0476403 BXGD008992 Electromyogram abnormal
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521670 BXGD009160 Cranial nerve compression Nervous System Diseases; Wounds and Injuries
C0522357 BXGD009202 Vertigo, Paroxysmal Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0557874 BXGD009444 Global developmental delay
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
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0687150 BXGD009842 Parathyroid Gland Adenocarcinoma Neoplasms; Endocrine System Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0730303 BXGD009950 Capillary hemangioma of retina Neoplasms; Cardiovascular Diseases
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0751267 BXGD010371 Encephalopathy, Subacute Necrotizing, Infantile Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751268 BXGD010372 Encephalopathy, Subacute Necrotizing, Juvenile Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751559 BXGD010500 Pulsatile Tinnitus Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0850703 BXGD010905 Frequent falls Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0949541 BXGD011578 Hurthle Cell Tumor Neoplasms
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1167918 BXGD011779 Increased CSF lactate
C1257877 BXGD011812 Pheochromocytoma, Extra-Adrenal Neoplasms
C1261473 BXGD011855 Sarcoma Neoplasms
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1280433 BXGD012125 Lipoatrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1333600 BXGD012636 Hereditary Malignant Neoplasm Neoplasms
C1333944 BXGD012657 Paraganglioma of head and neck Neoplasms
C1333993 BXGD012673 hereditary paraganglioma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C1337011 BXGD012874 Well Differentiated Pancreatic Endocrine Tumor Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1378703 BXGD012933 Renal carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1387805 BXGD012958 Episodic paroxysmal anxiety Behavior and Behavior Mechanisms
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1527344 BXGD013275 Dysphonia Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1533592 BXGD013316 Malignant Paraganglionic Neoplasm Neoplasms
C1533847 BXGD013318 Disorder of skeletal muscle Musculoskeletal Diseases; Nervous System Diseases
C1611743 BXGD013456 Familial (FPAH)
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1708353 BXGD013599 Hereditary Paraganglioma-Pheochromocytoma Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836806 BXGD014162 Mild microcephaly
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837098 BXGD014198 Easy fatigability
C1837388 BXGD014225 Abnormal pattern of respiration
C1838951 BXGD014347 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1839832 BXGD014415 Noncompaction cardiomyopathy Cardiovascular Diseases
C1839888 BXGD014424 Decreased activity of the pyruvate dehydrogenase complex
C1843175 BXGD014563 Hyperreflexia in upper limbs Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1845245 BXGD014730 Lower limb hypertonia
C1846176 BXGD014791 Hyperactive deep tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847973 BXGD014899 Persistent Polyclonal B-Cell Lymphocytosis Hemic and Lymphatic Diseases
C1848736 BXGD014970 Distal amyotrophy
C1849097 BXGD015006 Loss of ability to walk
C1849265 BXGD015028 Overgrowth
C1850597 BXGD015155 Leigh Syndrome Due To Mitochondrial Complex II Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850598 BXGD015156 Leigh Syndrome due to Mitochondrial Complex III Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850599 BXGD015157 Leigh Syndrome due to Mitochondrial Complex IV Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850600 BXGD015158 Leigh Syndrome due to Mitochondrial Complex V Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1854301 BXGD015391 Motor delay Mental Disorders
C1855008 BXGD015449 Mitochondrial Complex II Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1855010 BXGD015450 Progressive leukoencephalopathy Nervous System Diseases
C1855038 BXGD015452 Hepatocellular necrosis
C1855483 BXGD015501 Progressive spastic paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1856565 BXGD015618 Progressive psychomotor deterioration
C1857171 BXGD015680 Episodic hyperhidrosis Skin and Connective Tissue Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858592 BXGD015812 Carney Triad Digestive System Diseases; Neoplasms; Respiratory Tract Diseases
C1859598 BXGD015913 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
C1860236 BXGD015969 Irregular hyperpigmentation Skin and Connective Tissue Diseases
C1866284 BXGD016394 Motor deterioration Mental Disorders
C1868393 BXGD016498 Elevated urinary epinephrine
C1868394 BXGD016499 Elevated calcitonin
C1960469 BXGD016664 Left ventricular noncompaction Cardiovascular Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2237142 BXGD016960 Moderate global developmental delay
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2700617 BXGD017474 Irritation - emotion Behavior and Behavior Mechanisms
C2919142 BXGD017867 Short Stature, CTCAE
C2931891 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C2937358 BXGD018159 Cerebral Hemorrhage Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C3150898 BXGD018350 CARDIOMYOPATHY, DILATED, 1GG
C3160712 BXGD018467 Palpitations, CTCAE
C3179349 BXGD018550 Gastrointestinal Stromal Sarcoma Digestive System Diseases; Neoplasms
C3203483 BXGD018559 Pulmonary chondroma Neoplasms; Respiratory Tract Diseases
C3275417 BXGD018663 Ragged-red muscle fibers
C3279992 BXGD018793 PARAGANGLIOMAS 5
C3665347 BXGD019279 Visual Impairment 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
C3808022 BXGD019536 Episodic abdominal pain Pathological Conditions, Signs and Symptoms
C4020730 BXGD020473 Increased intramyocellular lipid droplets
C4021546 BXGD020663 Abnormal mitochondria in muscle tissue
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4021780 BXGD020775 Abnormality of the liver
C4022998 BXGD021058 Arachnoid hemangiomatosis Neoplasms
C4023099 BXGD021105 Elevated urinary dopamine
C4024609 BXGD021340 Decreased activity of mitochondrial respiratory chain
C4024705 BXGD021378 Decreased activity of mitochondrial complex II
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4025244 BXGD021603 Abnormal atrioventricular conduction
C4025278 BXGD021619 Stress/infection-induced lactic acidosis Nutritional and Metabolic Diseases
C4025594 BXGD021683 Positive regitine blocking test
C4025626 BXGD021701 Elevated urinary norepinephrine
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4293708 BXGD022515 Recurrent paroxysmal headache Pathological Conditions, Signs and Symptoms
C4476644 BXGD022846 Segmental myoclonic seizures
C4551675 BXGD023384 Keratoderma, Palmoplantar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C4551683 BXGD023389 Adrenal Gland Pheochromocytoma Neoplasms; Endocrine System Diseases
C4552810 BXGD023525 Irritability, CTCAE
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0002591 Potassium 39.1
BXGC0006617 Coenzyme Q 863.34
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