protein

Showing entry for Sodium channel protein type 1 subunit alpha

General Target Information
BXGT Id	BXGT009838
Protein Name	Sodium channel protein type 1 subunit alpha
Uniport Id	P35498
Gene	SCN1A
Gene Id	6323
Domain	Ion_trans; Na_trans_assoc; Na_trans_cytopl
Pfam	PF00520 PF06512 PF11933
Organism	Homo sapiens (Human)

Target protein affiliated biological pathways

KEGG

Class	Subclass	KEGG Id	Pathway Name
5. Organismal Systems	5.6 Nervous system	hsa04728	Dopaminergic synapse

Gene Ontology

GO Type	GO Id	Gene Ontology
Biological Process	GO:0086002	cardiac muscle cell action potential involved in contraction
Biological Process	GO:0050966	detection of mechanical stimulus involved in sensory perception of pain
Biological Process	GO:0086010	membrane depolarization during action potential
Biological Process	GO:0019228	neuronal action potential
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: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:0016604	nuclear body
cellular component	GO:0005654	nucleoplasm
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
C0000768	BXGD000007	Congenital Abnormality	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000921	BXGD000019	Accidental Falls
C0001418	BXGD000050	Adenocarcinoma	Neoplasms
C0001807	BXGD000077	Aggressive behavior	Behavior and Behavior Mechanisms
C0002395	BXGD000111	Alzheimer's Disease	Nervous System Diseases; Mental Disorders
C0003467	BXGD000194	Anxiety	Behavior and Behavior Mechanisms
C0003469	BXGD000195	Anxiety Disorders	Mental Disorders
C0003811	BXGD000222	Cardiac Arrhythmia	Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004134	BXGD000256	Ataxia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004352	BXGD000269	Autistic Disorder	Mental Disorders
C0004936	BXGD000295	Mental disorders	Mental Disorders
C0006826	BXGD000408	Malignant Neoplasms	Neoplasms
C0007097	BXGD000424	Carcinoma	Neoplasms
C0007137	BXGD000445	Squamous cell carcinoma	Neoplasms
C0007193	BXGD000451	Cardiomyopathy, Dilated	Cardiovascular Diseases
C0007758	BXGD000475	Cerebellar Ataxia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007847	BXGD000492	Malignant tumor of cervix	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0009241	BXGD000595	Cognition Disorders	Mental Disorders
C0009402	BXGD000605	Colorectal Carcinoma	Digestive System Diseases; Neoplasms
C0009952	BXGD000639	Febrile Convulsions	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0011071	BXGD000696	Sudden death	Pathological Conditions, Signs and Symptoms
C0014122	BXGD000896	Subacute Bacterial Endocarditis	Infections; Cardiovascular Diseases
C0014457	BXGD000915	Eosinophilia	Hemic and Lymphatic Diseases
C0014518	BXGD000921	Toxic Epidermal Necrolysis	Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases
C0014544	BXGD000926	Epilepsy	Nervous System Diseases
C0014547	BXGD000927	Epilepsies, Partial	Nervous System Diseases
C0014548	BXGD000928	Epilepsy, Generalized	Nervous System Diseases
C0014549	BXGD000929	Tonic-Clonic Epilepsy	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
C0015967	BXGD001030	Fever	Pathological Conditions, Signs and Symptoms
C0016202	BXGD001050	Flatfoot	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017160	BXGD001099	Gastroenteritis	Digestive System Diseases
C0017332	BXGD001107	Generalized Nonconvulsive Seizure Disorder	Nervous System Diseases
C0017639	BXGD001133	Gliosis	Pathological Conditions, Signs and Symptoms
C0018681	BXGD001214	Headache	Pathological Conditions, Signs and Symptoms
C0018784	BXGD001220	Sensorineural Hearing Loss (disorder)	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018798	BXGD001223	Congenital Heart Defects	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018989	BXGD001263	Hemiparesis	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0018991	BXGD001264	Hemiplegia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0019147	BXGD001289	Hepatic Coma	Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
C0020097	BXGD001360	HTLV-I Infections	Infections; Immune System Diseases
C0020534	BXGD001421	Orbital separation excessive	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020796	BXGD001468	Profound Mental Retardation	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0023269	BXGD001627	leiomyosarcoma	Neoplasms
C0025363	BXGD001867	Mental Retardation, Psychosocial	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026106	BXGD001889	Mild Mental Retardation	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026351	BXGD001900	Moderate intellectual disability	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026650	BXGD001913	Movement Disorders	Nervous System Diseases
C0026827	BXGD001936	Muscle hypotonia	Pathological Conditions, Signs and Symptoms; 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
C0027819	BXGD002043	Neuroblastoma	Neoplasms
C0028738	BXGD002081	Nystagmus	Eye Diseases; Nervous System Diseases
C0028754	BXGD002082	Obesity	Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0030193	BXGD002191	Pain	Pathological Conditions, Signs and Symptoms
C0030567	BXGD002240	Parkinson Disease	Nervous System Diseases
C0031212	BXGD002295	Personality Disorders	Mental Disorders
C0035334	BXGD002539	Retinitis Pigmentosa	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035372	BXGD002544	Rett Syndrome	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0036572	BXGD002625	Seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036690	BXGD002632	Septicemia	Pathological Conditions, Signs and Symptoms; Infections
C0036857	BXGD002638	Severe intellectual disability	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037317	BXGD002689	Sleep disturbances	Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037769	BXGD002701	West Syndrome	Nervous System Diseases
C0038220	BXGD002740	Status Epilepticus	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038325	BXGD002745	Stevens-Johnson Syndrome	Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases
C0038522	BXGD002767	Subacute Sclerosing Panencephalitis	Infections; Nervous System Diseases
C0038644	BXGD002776	Sudden infant death syndrome	Pathological Conditions, Signs and Symptoms
C0040822	BXGD002885	Tremor	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042769	BXGD002999	Virus Diseases	Infections
C0085584	BXGD003195	Encephalopathies	Nervous System Diseases
C0085605	BXGD003200	Liver Failure	Digestive System Diseases
C0085636	BXGD003218	Photophobia	Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0086236	BXGD003272	Epilepsy, Atonic	Nervous System Diseases
C0086237	BXGD003273	Epilepsy, Cryptogenic	Nervous System Diseases
C0086241	BXGD003275	Epilepsy, Tonic	Nervous System Diseases
C0149886	BXGD003379	Seizure, Febrile, Simple	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0149931	BXGD003388	Migraine Disorders	Nervous System Diseases
C0149958	BXGD003395	Complex partial seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151611	BXGD003447	Electroencephalogram abnormal	Nervous System Diseases
C0154723	BXGD003737	Migraine with Aura	Nervous System Diseases
C0159020	BXGD003919	Convulsions in the newborn	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0178874	BXGD004037	Tumor Progression	Pathological Conditions, Signs and Symptoms
C0206623	BXGD004189	Adenosquamous carcinoma	Neoplasms
C0220669	BXGD004318	Familial benign neonatal epilepsy	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0221354	BXGD004446	Frontal bossing	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0233397	BXGD004574	Psychological symptom
C0233514	BXGD004584	Abnormal behavior	Behavior and Behavior Mechanisms
C0233565	BXGD004590	Bradykinesia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234533	BXGD004687	Generalized seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234985	BXGD004708	Mental deterioration	Mental Disorders
C0235946	BXGD004789	Cerebral atrophy	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0236018	BXGD004804	Aura	Nervous System Diseases
C0238111	BXGD004877	Lennox-Gastaut syndrome	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0239234	BXGD004974	Low set ears
C0241210	BXGD005086	Speech Delay	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0243026	BXGD005210	Sepsis	Pathological Conditions, Signs and Symptoms; Infections
C0262405	BXGD005237	Cerebral dysfunction	Nervous System Diseases
C0266464	BXGD005676	Polymicrogyria	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266487	BXGD005682	Etat Marbre	Nervous System Diseases
C0270816	BXGD006110	epilepsy and migraine
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
C0270846	BXGD006116	Epileptic drop attack	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270850	BXGD006117	Idiopathic generalized epilepsy	Nervous System Diseases
C0270853	BXGD006119	Juvenile Myoclonic Epilepsy	Nervous System Diseases
C0270854	BXGD006120	Symptomatic Generalized Epilepsy	Nervous System Diseases
C0270855	BXGD006121	Early myoclonic encephalopathy	Nervous System Diseases
C0270857	BXGD006122	Epilepsy, Reflex	Nervous System Diseases
C0270862	BXGD006125	Hemiplegic migraine	Nervous System Diseases
C0278607	BXGD006548	Adult Leiomyosarcoma	Neoplasms
C0279986	BXGD006705	Childhood Leiomyosarcoma	Neoplasms
C0302592	BXGD006851	Cervix carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0311334	BXGD006876	Generalized convulsive epilepsy	Nervous System Diseases
C0311335	BXGD006877	Grand Mal Status Epilepticus	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0333068	BXGD006920	Flexion contracture	Musculoskeletal Diseases
C0338113	BXGD007168	Uterine Corpus Sarcoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0338478	BXGD007184	Idiopathic Myoclonic Epilepsy	Nervous System Diseases
C0338479	BXGD007185	Symptomatic Myoclonic Epilepsy	Nervous System Diseases
C0338480	BXGD007186	Common Migraine	Nervous System Diseases
C0338484	BXGD007188	Familial Hemiplegic Migraine	Nervous System Diseases
C0338656	BXGD007211	Impaired cognition	Mental Disorders
C0340970	BXGD007379	Congenital neutropenia	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0347869	BXGD007861	Epilepsy, Akinetic	Nervous System Diseases
C0349251	BXGD007897	Behavioral syndrome associated with physiological disturbance and physical factors	Mental Disorders
C0349506	BXGD007912	Photosensitivity of skin	Skin and Connective Tissue Diseases
C0375206	BXGD007973	Hemiplegia/hemiparesis
C0376358	BXGD007992	Malignant neoplasm of prostate	Neoplasms; Male Urogenital Diseases
C0376532	BXGD008000	Epilepsy, Rolandic	Nervous System Diseases
C0391957	BXGD008019	idiopathic epilepsy
C0391958	BXGD008020	Familial Epilepsies	Nervous System Diseases
C0392514	BXGD008051	Hereditary hemochromatosis	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0393484	BXGD008075	Rasmussen Syndrome	Nervous System Diseases
C0393676	BXGD008116	Panayiotopoulos Syndrome	Nervous System Diseases
C0393695	BXGD008121	Early Childhood Epilepsy, Myoclonic	Nervous System Diseases
C0393702	BXGD008124	Myoclonic Astatic Epilepsy	Nervous System Diseases
C0393703	BXGD008125	Myoclonic Absence Epilepsy	Nervous System Diseases
C0393706	BXGD008126	Early infantile epileptic encephalopathy with suppression bursts	Nervous System Diseases
C0395920	BXGD008173	Migrainous vertigo	Nervous System Diseases; Otorhinolaryngologic Diseases
C0424230	BXGD008522	Motor retardation	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0424295	BXGD008524	Hyperactive behavior	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424574	BXGD008534	Duration of sleep
C0424605	BXGD008535	Developmental delay (disorder)	Mental Disorders
C0426900	BXGD008596	Tibial torsion
C0431380	BXGD008680	Cortical Dysplasia	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431391	BXGD008683	Hemimegalencephaly	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0432072	BXGD008718	Dysmorphic features
C0438414	BXGD008802	Myoclonic Encephalopathy	Nervous System 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
C0520947	BXGD009126	Clumsiness - motor delay	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0520966	BXGD009128	Abnormal coordination	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0521158	BXGD009130	Recurrent tumor
C0521857	BXGD009185	Increased drug resistance
C0524528	BXGD009229	Pervasive Development Disorder	Mental Disorders
C0543888	BXGD009300	Epileptic encephalopathy	Nervous System Diseases
C0549118	BXGD009358	Hemiplegia-hemiconvulsion-epilepsy syndrome	Nervous System Diseases
C0557874	BXGD009444	Global developmental delay
C0595948	BXGD009630	Atypical absence seizure	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0596887	BXGD009648	mathematical ability
C0598935	BXGD009674	Tumor Initiation	Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139	BXGD009695	Prostate carcinoma	Neoplasms; Male Urogenital Diseases
C0677600	BXGD009720	Inspiratory stridor	Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0700095	BXGD009875	Central neuroblastoma	Neoplasms; Nervous System Diseases
C0701811	BXGD009902	Poor short-term memory	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0748607	BXGD010201	Recurrent seizure	Nervous System Diseases
C0751057	BXGD010307	Seizure, Febrile, Complex	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751111	BXGD010319	Awakening Epilepsy	Nervous System Diseases
C0751120	BXGD010324	Benign Infantile Myoclonic 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
C0751651	BXGD010539	Mitochondrial Diseases	Nutritional and Metabolic Diseases
C0751778	BXGD010587	Myoclonic Epilepsies, Progressive	Nervous System Diseases
C0751783	BXGD010592	Lafora Disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751785	BXGD010594	Unverricht-Lundborg Syndrome	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752323	BXGD010716	Focal Clonic Seizures	Nervous System Diseases
C0851578	BXGD010925	Sleep Disorders	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0856975	BXGD011127	Autistic behavior	Behavior and Behavior Mechanisms
C0863106	BXGD011272	Afebrile seizure	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0877017	BXGD011329	Generalized tonic-clonic seizures with focal onset	Pathological Conditions, Signs and Symptoms; 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
C0917800	BXGD011411	Epilepsy, Myoclonic, Infantile	Nervous System Diseases
C0917816	BXGD011419	Mental deficiency	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0919267	BXGD011426	ovarian neoplasm	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0947785	BXGD011495	[D]Sleep disturbances (& [hypersomnia] or [insomnia])
C0973461	BXGD011595	Dysphasia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1096063	BXGD011600	Drug Resistant Epilepsy	Nervous System Diseases
C1140680	BXGD011718	Malignant neoplasm of ovary	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1261473	BXGD011855	Sarcoma	Neoplasms
C1269955	BXGD012005	Tumor Cell Invasion
C1301937	BXGD012300	Talipes	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1305855	BXGD012348	Body mass index
C1306459	BXGD012361	Primary malignant neoplasm	Neoplasms
C1306587	BXGD012368	Acute encephalopathy	Nervous System Diseases
C1306759	BXGD012374	Eosinophilic disorder	Hemic and Lymphatic Diseases
C1335177	BXGD012771	Ovarian Serous Adenocarcinoma	Neoplasms
C1504404	BXGD013141	Hippocampal sclerosis
C1510586	BXGD013176	Autism Spectrum Disorders	Mental Disorders
C1535926	BXGD013322	Neurodevelopmental Disorders	Mental Disorders
C1536075	BXGD013333	Sudden unexplained death in epilepsy
C1560249	BXGD013361	Adverse Event Associated with Cardiac Arrhythmia
C1562113	BXGD013372	Fleck corneal dystrophy	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1611743	BXGD013456	Familial (FPAH)
C1636149	BXGD013482	Macular dystrophy, corneal type 1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1704431	BXGD013563	Disorder of electrolytes	Nutritional and Metabolic Diseases
C1719788	BXGD013661	Episodic ataxia type 1	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1720416	BXGD013672	Episodic ataxia type 2 (disorder)	Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C1720983	BXGD013698	Channelopathies	Pathological Conditions, Signs and Symptoms
C1832884	BXGD013880	Hemiplegic migraine, familial type 1	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1833661	BXGD013935	PAROXYSMAL EXTREME PAIN DISORDER	Pathological Conditions, Signs and Symptoms
C1834433	BXGD013973	Obsessive-compulsive trait	Behavior and Behavior Mechanisms
C1836508	BXGD014124	Generalized tonic seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1836830	BXGD014165	Developmental regression	Mental Disorders
C1837249	BXGD014210	Malformations of Cortical Development, Group II	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1837352	BXGD014223	Childhood onset
C1839333	BXGD014369	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Nervous System Diseases
C1843367	BXGD014576	Poor school performance
C1843392	BXGD014582	Death in childhood
C1844690	BXGD014662	Limited knee extension
C1846620	BXGD014832	Hemiclonic seizures	Nervous System Diseases
C1847514	BXGD014868	Postnatal microcephaly
C1849265	BXGD015028	Overgrowth
C1850601	BXGD015159	Abnormality of brainstem morphology
C1852581	BXGD015294	EPILEPSY, BENIGN NEONATAL, 2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1853118	BXGD015302	Severe congenital neutropenia	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C1854301	BXGD015391	Motor delay	Mental Disorders
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
C1858120	BXGD015774	Generalized hypotonia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858673	BXGD015816	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861403	BXGD016045	Variable expressivity
C1864987	BXGD016280	Migraine, Familial Hemiplegic, 3	Nervous System Diseases
C1867864	BXGD016472	Poor fine motor coordination
C1876181	BXGD016562	EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS	Nervous System Diseases
C1955869	BXGD016612	Malformations of Cortical Development	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1963184	BXGD016688	Nystagmus, CTCAE 3.0
C2062593	BXGD016898	Mesial temporal sclerosis
C2349453	BXGD017061	Familial migraine
C2733158	BXGD017562	Cerebral Small Vessel Diseases	Nervous System Diseases; Cardiovascular Diseases
C2751756	BXGD017736	Febrile Convulsions, Familial, 3a	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2930868	BXGD017909	Rasmussen subacute encephalitis	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3264000	BXGD018590	Refractory juvenile myoclonic epilepsy	Nervous System Diseases
C3281191	BXGD018886	SCN8A-related epilepsy with encephalopathy	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3463992	BXGD018904	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Nervous System Diseases
C3494976	BXGD018977	Migrating partial seizures in infancy	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3496069	BXGD019017	cocaine use
C3502809	BXGD019049	Generalized Epilepsy with Febrile Seizures Plus	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3696898	BXGD019348	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nervous System Diseases
C3698357	BXGD019370	Refractory myoclonic epilepsy	Nervous System Diseases
C3714756	BXGD019429	Intellectual Disability	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805727	BXGD019486	MEGALENCEPHALY, AUTOSOMAL DOMINANT
C3810365	BXGD019652	Central visual impairment	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3827273	BXGD019737	Sudden Unexplained Death in Childhood
C3887506	BXGD019886	Hyperkinesia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887898	BXGD019926	Infantile Spasm	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3889476	BXGD020004	Benign Familial Convulsion	Nervous System Diseases
C4014430	BXGD020146	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
C4021759	BXGD020762	Generalized myoclonic seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022738	BXGD020974	Neurodevelopmental delay
C4023408	BXGD021181	Abnormality of mouth size
C4023479	BXGD021200	EEG with focal sharp slow waves
C4023511	BXGD021206	Obtundation status	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023683	BXGD021240	EEG with spike-wave complexes
C4024945	BXGD021492	Generalized cerebral atrophy/hypoplasia
C4048158	BXGD021890	Convulsions	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4048268	BXGD021896	Cortical visual impairment	Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4048328	BXGD021903	cervical cancer	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4049262	BXGD021917	Febrile infection related epilepsy syndrome	Nervous System Diseases
C4085238	BXGD022111	MYOCLONIC-ATONIC EPILEPSY
C4086165	BXGD022126	Childhood Neuroblastoma	Neoplasms
C4316903	BXGD022711	Absence Seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317109	BXGD022725	Epileptic Seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4505072	BXGD022953	Epileptic Syndromes	Nervous System Diseases
C4531100	BXGD023187	Negative affectivity
C4551549	BXGD023343	Early Infantile Epileptic Encephalopathy 6	Nervous System Diseases
C4551649	BXGD023382	Congenital Dysplasia Of The Hip	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551686	BXGD023391	Malignant neoplasm of soft tissue	Neoplasms
C4552072	BXGD023482	X-linked infantile spasms	Nervous System Diseases
C4554036	BXGD023557	Nystagmus, CTCAE 5.0
C4707658	BXGD023720	Acute encephalopathy with biphasic seizures and late reduced diffusion	Nervous System Diseases
C4721610	BXGD023760	Carcinoma, Ovarian Epithelial	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4722085	BXGD023788	Malignant neoplasm of colon and/or rectum
C4749367	BXGD024057	Mesial temporal lobe epilepsy with hippocampal sclerosis	Nervous System Diseases

Target protein-related compounds

Compounds

BXGC Id	Compound Name	Strcuture	Molecular Weight
BXGC0000130	Estradiol		272.38
BXGC0000202	Papaverine		339.39
BXGC0000204	Theophylline		180.16
BXGC0001502	Caffeine		194.19
BXGC0002867	Lappaurin		284.74
BXGC0003707	Estrogen		268.36
BXGC0003956	Fenugrin E		178.19
BXGC0005870	Codeine		299.36
BXGC0016891	Nortriptyline		263.17
BXGC0017719	Strychnine		334.17
BXGC0020800	Testosterone		288.21
BXGC0024988	Nifedipine		346.12
BXGC0028885	Secobarbital		238.13
BXGC0030085	Bicuculline		367.11
BXGC0030901	Morphine		285.14
BXGC0034379	Tetraethylammonium Chloride		130.16
BXGC0035201	Quinidine		324.18
BXGC0038316	Cholesterol		386.35
BXGC0042179	Atropine		289.17
BXGC0042281	Permethrin		390.08
BXGC0044017	Verapamil		454.28
BXGC0045812	Trifluoperazine		407.16
BXGC0046755	Yohimbine		354.19
BXGC0047867	Dalfampridine		94.05
BXGC0049369	Tetrodotoxin		319.1
BXGC0052374	Reserpine		608.27

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}