Showing entry for Infantile Severe Myoclonic Epilepsy


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010325
Disease NameInfantile Severe Myoclonic Epilepsy
Disease CUI IdC0751122
MeSH Codes C10  
Disease Class NameNervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease of anatomical entity
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O00305 BXGT003907 Voltage-dependent L-type calcium channel subunit beta-4 785 reviewed Ion channel
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O14764 BXGT004094 Gamma-aminobutyric acid receptor subunit delta 2563 reviewed Ion channel
O43497 BXGT004596 Voltage-dependent T-type calcium channel subunit alpha-1G 8913 reviewed Ion channel
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O95278 BXGT005370 Laforin 7957 reviewed
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P04406 BXGT006207 Glyceraldehyde-3-phosphate dehydrogenase 2597 reviewed Enzyme
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P14867 BXGT008061 Gamma-aminobutyric acid receptor subunit alpha-1 2554 reviewed Ion channel
P18507 BXGT008411 Gamma-aminobutyric acid receptor subunit gamma-2 2566 reviewed Ion channel
P20472 BXGT008578 Parvalbumin alpha 5816 reviewed Calcium-binding protein
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P25100 BXGT009017 Alpha-1D adrenergic receptor 146 reviewed G-protein coupled receptor
P28472 BXGT009260 Gamma-aminobutyric acid receptor subunit beta-3 2562 reviewed Ion channel
P33261 BXGT009707 Cytochrome P450 2C19 1557 reviewed
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P47869 BXGT010590 Gamma-aminobutyric acid receptor subunit alpha-2 2555 reviewed Ion channel
P49419 BXGT010705 Alpha-aminoadipic semialdehyde dehydrogenase 501 reviewed Enzyme
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P54756 BXGT011074 Ephrin type-A receptor 5 2044 reviewed Kinase
Q01094 BXGT012568 Transcription factor E2F1 1869 reviewed Nucleic acid binding
Q01118 BXGT012570 Sodium channel protein type 7 subunit alpha 6332 reviewed Ion channel
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q08050 BXGT012958 Forkhead box protein M1 2305 reviewed
Q15858 BXGT013610 Sodium channel protein type 9 subunit alpha 6335 reviewed Ion channel
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q9H2X9 BXGT020459 Solute carrier family 12 member 5 57468 reviewed Transporter
Q9NQX3 BXGT021172 Gephyrin 10243 reviewed
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y2T6 BXGT022247 G-protein coupled receptor 55 9290 reviewed G-protein coupled receptor
O60939 BXGT023048 Sodium channel subunit beta-2 6327 reviewed Ion channel
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q8TAB3 BXGT025819 Protocadherin-19 57526 reviewed
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease