Showing entry for Sodium channel protein type 8 subunit alpha



                       
General Target Information
BXGT IdBXGT021811
Protein NameSodium channel protein type 8 subunit alpha
Uniport IdQ9UQD0
GeneSCN8A
Gene Id6334
DomainIon_trans; IQ; Na_trans_assoc; Na_trans_cytopl
Pfam PF00520   PF00612   PF06512   PF11933  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0086010 membrane depolarization during action potential
Biological Process GO:0042552 myelination
Biological Process GO:0007399 nervous system development
Biological Process GO:0019228 neuronal action potential
Biological Process GO:0007422 peripheral nervous system development
Biological Process GO:0034765 regulation of ion transmembrane transport
Biological Process GO:0035725 sodium ion transmembrane transport
Biological Process GO:0006814 sodium ion transport
molecular function GO:0005524 ATP binding
molecular function GO:0005261 cation channel activity
molecular function GO:0005244 voltage-gated ion channel activity
molecular function GO:0005248 voltage-gated sodium channel activity
cellular component GO:0030424 axon
cellular component GO:0043194 axon initial segment
cellular component GO:0030054 cell junction
cellular component GO:0031410 cytoplasmic vesicle
cellular component GO:0016021 integral component of membrane
cellular component GO:0033268 node of Ranvier
cellular component GO:0005886 plasma membrane
cellular component GO:0001518 voltage-gated sodium channel complex
cellular component GO:0030018 Z disc
Reactome
Pathway Id Pathway Name
R-HSA-1266738 Developmental Biology
R-HSA-373760 L1CAM interactions
R-HSA-397014 Muscle contraction
R-HSA-422475 Axon guidance
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576891 Cardiac conduction
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-9675108 Nervous system development
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002312 BXGD000107 alpha-Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; Nervous System Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004238 BXGD000262 Atrial Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004936 BXGD000295 Mental disorders Mental Disorders
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005941 BXGD000353 Bone Diseases, Developmental Musculoskeletal Diseases
C0006012 BXGD000360 Borderline Personality Disorder Mental Disorders
C0006287 BXGD000390 Bronchopulmonary Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007789 BXGD000488 Cerebral Palsy Nervous System Diseases
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0009241 BXGD000595 Cognition Disorders Mental Disorders
C0009952 BXGD000639 Febrile Convulsions Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011603 BXGD000734 Dermatitis Skin and Connective Tissue Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine 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
C0014070 BXGD000887 Encephalomyelitis Infections; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014547 BXGD000927 Epilepsies, Partial Nervous System Diseases
C0014550 BXGD000930 Myoclonic Epilepsy Nervous System Diseases
C0014553 BXGD000931 Absence Epilepsy Nervous System Diseases
C0014556 BXGD000932 Epilepsy, Temporal Lobe Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0015732 BXGD001018 Fecal Incontinence Digestive System Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0018524 BXGD001200 Hallucinations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0019372 BXGD001329 Herpesviridae Infections Infections
C0020445 BXGD001386 Hypercholesterolemia, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020608 BXGD001443 Hypodontia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0020796 BXGD001468 Profound Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0021125 BXGD001483 Impulsive Behavior Behavior and Behavior Mechanisms
C0022575 BXGD001555 Keratoconjunctivitis Sicca Eye Diseases
C0025149 BXGD001826 Medulloblastoma Neoplasms
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025363 BXGD001867 Mental Retardation, Psychosocial Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026760 BXGD001927 Multiple Epiphyseal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026837 BXGD001937 Muscle Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027498 BXGD001994 Nausea and vomiting Pathological Conditions, Signs and Symptoms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027796 BXGD002037 Neuralgia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030499 BXGD002232 Parasitic Diseases Infections
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0031069 BXGD002279 Familial Mediterranean Fever Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0032768 BXGD002370 Postherpetic neuralgia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0034935 BXGD002497 Babinski Reflex
C0035304 BXGD002528 Retinal Degeneration Eye Diseases
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
C0037140 BXGD002667 B Virus Infection Infections
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038271 BXGD002742 Stereotyped Behavior Behavior and Behavior Mechanisms
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0039445 BXGD002810 Hereditary hemorrhagic telangiectasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0040827 BXGD002886 Saturnine Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0041834 BXGD002935 Erythema Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0086237 BXGD003273 Epilepsy, Cryptogenic Nervous System Diseases
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0149840 BXGD003371 Senile Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0149931 BXGD003388 Migraine Disorders 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
C0205748 BXGD004117 Dysplastic Nevus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0205858 BXGD004135 General Paralysis Infections; Nervous System Diseases
C0220669 BXGD004318 Familial benign neonatal epilepsy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0220726 BXGD004333 Diastrophic dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0231686 BXGD004508 Gait, Unsteady Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0233844 BXGD004620 Clumsiness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0234162 BXGD004627 Cerebellar Dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234166 BXGD004628 Hyperexplexia Nervous System Diseases
C0234357 BXGD004650 Adiadochokinesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234370 BXGD004653 Persistent Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234371 BXGD004654 Continuous Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234372 BXGD004655 Intermittent Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234373 BXGD004656 Fine Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234374 BXGD004657 Coarse Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234375 BXGD004658 Massive Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234377 BXGD004660 Passive Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234378 BXGD004661 Static Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234379 BXGD004662 Resting Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234381 BXGD004663 Darkness Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234428 BXGD004666 Disturbance of consciousness
C0234533 BXGD004687 Generalized seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235078 BXGD004719 Tremor, Perioral Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235081 BXGD004720 Tremor, Limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235082 BXGD004721 Tremor, Muscle Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235083 BXGD004722 Nerve Tremors Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235659 BXGD004763 Reduced fetal movement Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0235843 BXGD004777 Tremor, Neonatal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0236018 BXGD004804 Aura Nervous System Diseases
C0236734 BXGD004823 Caffeine related disorders
C0239676 BXGD004989 High forehead
C0240379 BXGD005033 Open mouth (finding)
C0240479 BXGD005039 Neck muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0240991 BXGD005069 Ataxia, Sensory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0270736 BXGD006096 Essential Tremor Nervous System Diseases
C0270823 BXGD006112 Petit mal status Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270834 BXGD006114 Complex partial seizure with impairment of consciousness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270844 BXGD006115 Tonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0271616 BXGD006220 Precocious female puberty Endocrine System Diseases
C0272002 BXGD006292 alpha^0^ Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0278161 BXGD006504 Ataxia, Motor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0278510 BXGD006526 Childhood Medulloblastoma Neoplasms
C0278876 BXGD006607 Adult Medulloblastoma Neoplasms
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0311335 BXGD006877 Grand Mal Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0343284 BXGD007613 Chondrodysplasia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0349588 BXGD007933 Short stature
C0376480 BXGD007998 Gingival Overgrowth Stomatognathic Diseases
C0392699 BXGD008064 Dysesthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0393593 BXGD008103 Dystonia Disorders Nervous System Diseases
C0393706 BXGD008126 Early infantile epileptic encephalopathy with suppression bursts Nervous System Diseases
C0393734 BXGD008131 Complex Partial Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0410538 BXGD008434 Pseudoachondroplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0427190 BXGD008611 Ataxia, Truncal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0432072 BXGD008718 Dysmorphic features
C0438696 BXGD008805 Suicidal Behavior and Behavior Mechanisms
C0454455 BXGD008835 Mirror movements disorder Nervous System Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0472761 BXGD008916 Homozygous alpha thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0520966 BXGD009128 Abnormal coordination Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0524528 BXGD009229 Pervasive Development Disorder Mental Disorders
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0542476 BXGD009276 Forgetful Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0684276 BXGD009793 Hypsarrhythmia Nervous System Diseases
C0700292 BXGD009884 Hypoxemia Pathological Conditions, Signs and Symptoms
C0740279 BXGD009973 Cerebellar atrophy
C0742028 BXGD010051 Cerebellar vermis 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
C0750940 BXGD010260 Tremor, Rubral Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0750994 BXGD010280 Cerebellar Hemiataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751111 BXGD010319 Awakening Epilepsy Nervous System Diseases
C0751122 BXGD010325 Infantile Severe Myoclonic Epilepsy Nervous System Diseases
C0751494 BXGD010472 Convulsive Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751495 BXGD010473 Seizures, Focal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751522 BXGD010488 Status Epilepticus, Subclinical Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751523 BXGD010489 Non-Convulsive Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751524 BXGD010490 Simple Partial Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751564 BXGD010502 Pill Rolling Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751565 BXGD010503 Tremor, Semirhythmic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0752210 BXGD010697 Dyskinesias, Paroxysmal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0876973 BXGD011322 Infectious Lung Disorder Infections; Respiratory Tract Diseases
C0877430 BXGD011347 Asthma chronic
C0917816 BXGD011419 Mental deficiency Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0973461 BXGD011595 Dysphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1096063 BXGD011600 Drug Resistant Epilepsy Nervous System Diseases
C1261473 BXGD011855 Sarcoma Neoplasms
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1270972 BXGD012006 Mild cognitive disorder Mental Disorders
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1335302 BXGD012775 Pancreatic Ductal Adenocarcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1456873 BXGD013129 alpha^+^ Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1527366 BXGD013280 Salaam Seizures Nervous System Diseases
C1527384 BXGD013283 Involuntary Quiver Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1536075 BXGD013333 Sudden unexplained death in epilepsy
C1561643 BXGD013363 Chronic Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1611743 BXGD013456 Familial (FPAH)
C1740801 BXGD013744 Exaggerated startle response
C1834055 BXGD013953 Underdeveloped nasal alae
C1835807 BXGD014051 Prominent fingertip pads
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836308 BXGD014107 Generalized joint laxity
C1836508 BXGD014124 Generalized tonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1836829 BXGD014164 Developmental stagnation at onset of seizures
C1836830 BXGD014165 Developmental regression Mental Disorders
C1838391 BXGD014313 Limb hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1839333 BXGD014369 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 Nervous System Diseases
C1842581 BXGD014525 Abnormal corpus callosum morphology Pathological Conditions, Signs and Symptoms
C1843146 BXGD014560 Normal interictal EEG
C1845251 BXGD014734 Facial hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1846176 BXGD014791 Hyperactive deep tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1848980 BXGD014993 Developmental stagnation
C1849089 BXGD015004 Broad forehead
C1849367 BXGD015046 Nasal bridge wide
C1849683 BXGD015076 No social interaction Mental Disorders
C1850456 BXGD015146 Progressive microcephaly
C1851936 BXGD015247 Paroxysmal choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854301 BXGD015391 Motor delay Mental Disorders
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855496 BXGD015502 Contiguous gene syndrome
C1857483 BXGD015707 Decreased palmar creases
C1857704 BXGD015741 Abnormal myelination
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1864580 BXGD016235 Type 2 muscle fiber atrophy
C1865926 BXGD016357 Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1866129 BXGD016375 Abnormality of the cerebellum Nervous System Diseases
C1866231 BXGD016388 Full cheeks
C1867873 BXGD016473 Failure to thrive in infancy
C1869117 BXGD016550 Paroxysmal nonkinesigenic dyskinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1963167 BXGD016686 Memory Impairment, CTCAE 3.0
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2220255 BXGD016956 Motor disturbances
C2243051 BXGD017008 Large head (disorder)
C2919142 BXGD017867 Short Stature, CTCAE
C3160814 BXGD018477 Cannabis use
C3161174 BXGD018505 Hemoglobin H Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3278975 BXGD018749 Attenuation of retinal blood vessels
C3280415 BXGD018827 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
C3281191 BXGD018886 SCN8A-related epilepsy with encephalopathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3494976 BXGD018977 Migrating partial seizures in infancy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3668822 BXGD019319 Hypermetria (finding) Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806604 BXGD019520 Infantile axial hypotonia
C3839460 BXGD019773 Nonprogressive
C4014430 BXGD020146 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
C4021219 BXGD020582 Multifocal epileptiform discharges
C4021975 BXGD020851 Abnormality of the tonsils
C4022761 BXGD020988 Reduced brain N-acetyl aspartate level by MRS
C4022919 BXGD021038 Appendicular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023342 BXGD021158 Gastrostomy tube feeding in infancy
C4023491 BXGD021203 Interictal epileptiform activity
C4023687 BXGD021243 EEG with multifocal slow activity
C4024934 BXGD021484 Cerebellar medulloblastoma Neoplasms
C4025846 BXGD021826 Abnormality of vision
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4082299 BXGD022088 Bulbar palsy Nervous System Diseases
C4310728 BXGD022641 SEIZURES, BENIGN FAMILIAL INFANTILE, 5
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317146 BXGD022730 Acid reflux
C4477055 BXGD022912 Limb myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4505072 BXGD022953 Epileptic Syndromes Nervous System Diseases
C4551563 BXGD023351 Microcephaly (physical finding)
C4551570 BXGD023357 2-3 toe syndactyly
C4551686 BXGD023391 Malignant neoplasm of soft tissue Neoplasms
C4552072 BXGD023482 X-linked infantile spasms Nervous System Diseases
C4553743 BXGD023548 Spasticity, CTCAE
C4553765 BXGD023551 Memory Impairment, CTCAE 5.0
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4692845 BXGD023591 BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
C4722518 BXGD023806 Triple-Negative Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0024988 Nifedipine 346.12
BXGC0049369 Tetrodotoxin 319.1
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