Showing entry for Frataxin, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT013643
Protein NameFrataxin, mitochondrial
Uniport IdQ16595
GeneFXN
Gene Id2395
DomainFrataxin_Cyay
Pfam PF01491  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.8 Metabolism of cofactors and vitamins hsa00860 Porphyrin and chlorophyll metabolism
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007628 adult walking behavior
Biological Process GO:0009060 aerobic respiration
Biological Process GO:0006879 cellular iron ion homeostasis
Biological Process GO:0070301 cellular response to hydrogen peroxide
Biological Process GO:0009792 embryo development ending in birth or egg hatching
Biological Process GO:0006783 heme biosynthetic process
Biological Process GO:0006811 ion transport
Biological Process GO:0018283 iron incorporation into metallo-sulfur cluster
Biological Process GO:0016226 iron-sulfur cluster assembly
Biological Process GO:0007005 mitochondrion organization
Biological Process GO:0043066 negative regulation of apoptotic process
Biological Process GO:0040015 negative regulation of multicellular organism growth
Biological Process GO:0046621 negative regulation of organ growth
Biological Process GO:0090201 negative regulation of release of cytochrome c from mitochondria
Biological Process GO:0006119 oxidative phosphorylation
Biological Process GO:1904234 positive regulation of aconitate hydratase activity
Biological Process GO:0043085 positive regulation of catalytic activity
Biological Process GO:0030307 positive regulation of cell growth
Biological Process GO:0008284 positive regulation of cell population proliferation
Biological Process GO:0051349 positive regulation of lyase activity
Biological Process GO:1904231 positive regulation of succinate dehydrogenase activity
Biological Process GO:0019230 proprioception
Biological Process GO:0016540 protein autoprocessing
Biological Process GO:0010722 regulation of ferrochelatase activity
Biological Process GO:0010039 response to iron ion
Biological Process GO:0044281 small molecule metabolic process
molecular function GO:0051537 2 iron, 2 sulfur cluster binding
molecular function GO:0008199 ferric iron binding
molecular function GO:0008198 ferrous iron binding
molecular function GO:0004322 ferroxidase activity
molecular function GO:0034986 iron chaperone activity
cellular component GO:0005829 cytosol
cellular component GO:1990221 L-cysteine desulfurase complex
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1268020 Mitochondrial protein import
R-HSA-1268020 Mitochondrial protein import
R-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis
R-HSA-1430728 Metabolism
R-HSA-9609507 Protein localization
R-HSA-9609507 Protein localization
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000921 BXGD000019 Accidental Falls
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; Nervous System Diseases
C0002896 BXGD000153 Sideroblastic anemia Hemic and Lymphatic 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
C0004138 BXGD000258 Ataxias, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0005283 BXGD000308 beta Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0005859 BXGD000342 Bloom Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
C0006118 BXGD000372 Brain Neoplasms Neoplasms; Nervous System Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007760 BXGD000476 Cerebellar Diseases 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
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic 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
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0016667 BXGD001072 Fragile X Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0016719 BXGD001074 Friedreich Ataxia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0018790 BXGD001221 Cardiac Arrest Cardiovascular Diseases
C0018798 BXGD001223 Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018799 BXGD001224 Heart Diseases Cardiovascular Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018995 BXGD001265 Hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0019202 BXGD001302 Hepatolenticular Degeneration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
C0019348 BXGD001325 Herpes Simplex Infections Infections; Skin and Connective Tissue Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020433 BXGD001379 Hyperbilirubinemia Pathological Conditions, Signs and Symptoms
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0023009 BXGD001598 Speech and language disorder Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
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
C0024796 BXGD001806 Marfan Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025521 BXGD001876 Inborn Errors of Metabolism 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
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027126 BXGD001976 Myotonic Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027404 BXGD001984 Narcolepsy Nervous System Diseases; Mental Disorders
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028945 BXGD002099 oligodendroglioma Neoplasms
C0028968 BXGD002103 Olivopontocerebellar Atrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0032285 BXGD002344 Pneumonia Infections; Respiratory Tract Diseases
C0033626 BXGD002412 Protein Deficiency Nutritional and Metabolic Diseases
C0034152 BXGD002467 Henoch-Schoenlein Purpura Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0034935 BXGD002497 Babinski Reflex
C0035258 BXGD002523 Restless Legs Syndrome Nervous System Diseases; Mental Disorders
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0037773 BXGD002704 Spastic Paraplegia, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0037952 BXGD002719 Spinocerebellar Degeneration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039730 BXGD002826 Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0042875 BXGD003009 Vitamin E Deficiency Nutritional and Metabolic Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0086132 BXGD003264 Depressive Symptoms Behavior and Behavior Mechanisms
C0086543 BXGD003294 Cataract Eye Diseases
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0151313 BXGD003413 Sensory neuropathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0152101 BXGD003540 Hypoplastic Left Heart Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0154671 BXGD003726 Degenerative brain disorder Nervous System Diseases
C0155626 BXGD003806 Acute myocardial infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0162534 BXGD003953 Prion Diseases Infections; Nervous System Diseases
C0162670 BXGD003970 Mitochondrial Myopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0175704 BXGD004010 LEOPARD Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0205713 BXGD004114 Roussy-Levy Syndrome (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0206669 BXGD004229 Hepatocellular Adenoma Digestive System Diseases; Neoplasms
C0234162 BXGD004627 Cerebellar Dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0234649 BXGD004692 Abnormal saccadic eye movement
C0235031 BXGD004714 Neurologic Symptoms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235480 BXGD004751 Paroxysmal atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0239830 BXGD004998 Hand muscle atrophy
C0239981 BXGD005011 Hypoalbuminemia Hemic and Lymphatic Diseases
C0240066 BXGD005016 Iron deficiency Nutritional and Metabolic Diseases
C0240991 BXGD005069 Ataxia, Sensory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0268407 BXGD005936 Senile cardiac amyloidosis Nutritional and Metabolic Diseases; Cardiovascular Diseases
C0271650 BXGD006227 Impaired glucose tolerance Nutritional and Metabolic Diseases
C0278134 BXGD006498 Absence of sensation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0279070 BXGD006625 Adult Oligodendroglioma Neoplasms
C0280475 BXGD006749 Childhood Oligodendroglioma Neoplasms
C0282193 BXGD006798 Iron Overload Nutritional and Metabolic Diseases
C0282577 BXGD006816 Congenital Disorders of Glycosylation Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0338106 BXGD007167 Adenocarcinoma of colon Digestive System Diseases; Neoplasms
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
C0342782 BXGD007549 Depletion of mitochondrial DNA
C0342784 BXGD007551 Pearson's marrow-pancreas syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0344955 BXGD007710 Ventricular septal hypertrophy Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0392514 BXGD008051 Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0393519 BXGD008078 Cerebellar Ataxia, Early Onset Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393520 BXGD008079 Harding ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393556 BXGD008089 Complicated hereditary spastic paraplegia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393578 BXGD008098 Pallidoluysian degeneration Nervous System Diseases
C0393807 BXGD008147 Hereditary motor and sensory neuropathy with optic atrophy (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0394005 BXGD008165 Ataxic cerebral palsy Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431129 BXGD008665 Adamantinous Craniopharyngioma Neoplasms
C0442874 BXGD008814 Neuropathy Nervous System Diseases
C0476369 BXGD008990 Echocardiogram abnormal
C0521802 BXGD009182 Congenital atransferrinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0522055 BXGD009189 Electrocardiogram abnormal Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0522214 BXGD009196 Abnormal visual evoked potential Nervous System Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0574083 BXGD009501 3-Methylglutaconic aciduria type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
C0574084 BXGD009502 3-Methylglutaconic aciduria type 3 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0595921 BXGD009626 Intraocular pressure disorder Eye Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0598589 BXGD009667 Inherited neuropathies Nervous System Diseases
C0677932 BXGD009736 Progressive Neoplastic Disease
C0686353 BXGD009833 Muscular Dystrophies, Limb-Girdle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0742191 BXGD010060 Cervical spinal cord atrophy
C0745103 BXGD010114 Hyperlipoproteinemia Type IIa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0750937 BXGD010259 Ataxia, Appendicular Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751156 BXGD010332 FRAXA Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751383 BXGD010422 Juvenile Neuronal Ceroid Lipofuscinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751396 BXGD010425 Well Differentiated Oligodendroglioma Neoplasms
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0751781 BXGD010590 Dentatorubral-Pallidoluysian Atrophy Nervous System Diseases
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751870 BXGD010622 Heredodegenerative Disorders, Nervous System Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752120 BXGD010668 Spinocerebellar Ataxia Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0878682 BXGD011388 Ceruloplasmin deficiency Nutritional and Metabolic Diseases; Nervous System Diseases
C0917796 BXGD011408 Optic Atrophy, Hereditary, Leber Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0949658 BXGD011582 Cardiomyopathy, Hypertrophic, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0949857 BXGD011589 Mitochondrial Respiratory Chain Deficiencies Nutritional and Metabolic Diseases
C1285162 BXGD012167 Degenerative disorder Pathological Conditions, Signs and Symptoms
C1295585 BXGD012241 Decreased vibratory sense Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1395088 BXGD012988 Nervous system--Degeneration
C1519787 BXGD013250 Undifferentiated Neuroblastoma Neoplasms
C1611743 BXGD013456 Familial (FPAH)
C1631597 BXGD013480 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C1836150 BXGD014082 Gait imbalance
C1838027 BXGD014290 Incomprehensible speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1839259 BXGD014363 Bulbo-Spinal Atrophy, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1839780 BXGD014405 FRAGILE X TREMOR/ATAXIA SYNDROME Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1842587 BXGD014526 Sensory axonal neuropathy
C1843663 BXGD014600 Urinary bladder sphincter dysfunction
C1848533 BXGD014936 Ataxia with vitamin E deficiency Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
C1849148 BXGD015014 Decreased sensory nerve conduction velocity
C1849156 BXGD015017 Spastic Ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1853578 BXGD015346 Neuroferritinopathy Nutritional and Metabolic Diseases; Nervous System Diseases
C1853761 BXGD015359 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1856689 BXGD015630 FRIEDREICH ATAXIA 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1856691 BXGD015631 Impaired proprioception Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1856694 BXGD015632 Areflexia of lower limbs Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1856697 BXGD015633 Mitochondrial malic enzyme reduced
C1858361 BXGD015784 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1858729 BXGD015825 Decreased motor nerve conduction velocity
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
C1866751 BXGD016422 Spinocerebellar tract degeneration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1867864 BXGD016472 Poor fine motor coordination
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C1963674 BXGD016692 Spinocerebellar Ataxia 10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2931689 BXGD018049 Dystrophia myotonica 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2931845 BXGD018076 Neurodegeneration with brain iron accumulation (NBIA) Nutritional and Metabolic Diseases; Nervous System Diseases
C3273225 BXGD018648 Hereditary Neurodegenerative Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3276549 BXGD018691 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
C3469186 BXGD018909 HEMOCHROMATOSIS, TYPE 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C3469521 BXGD018910 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C3489532 BXGD018934 Cone-Rod Dystrophy 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3539781 BXGD019086 Progressive cGVHD
C3711370 BXGD019380 Spastic Paraplegia Type 7 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3714636 BXGD019421 Pneumonitis Infections; Respiratory Tract Diseases
C3825201 BXGD019684 Mitochondrial pathology
C3841475 BXGD019800 beta^+^ Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C3887506 BXGD019886 Hyperkinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887875 BXGD019923 Visual field defects Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4021047 BXGD020534 Impaired visually enhanced vestibulo-ocular reflex
C4024943 BXGD021490 Decreased amplitude of sensory action potentials
C4025641 BXGD021706 Decreased pyruvate carboxylase activity
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4087347 BXGD022144 Autosomal dominant cerebellar ataxia
C4275170 BXGD022367 Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C4518339 BXGD023019 Sporadic adult-onset ataxia of unknown etiology Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4551472 BXGD023303 Hypertrophic obstructive cardiomyopathy Cardiovascular Diseases
C4551511 BXGD023330 X-linked sideroblastic anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C4551854 BXGD023422 HYPOPLASTIC LEFT HEART SYNDROME 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
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
BXGC0002588 Magnesium 24.31
BXGC0008661 Iron 55.85
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