Showing entry for Malformations of Cortical Development, Group II


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD014210
Disease NameMalformations of Cortical Development, Group II
Disease CUI IdC1837249
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000707  
Human Phenotype Ontology TermAbnormality of the nervous system
Disease Ontology Id   
Disease Ontology Class Name
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
O00187 BXGT003890 Mannan-binding lectin serine protease 2 10747 reviewed Enzyme
O00244 BXGT003902 Copper transport protein ATOX1 475 reviewed
O00444 BXGT003921 Serine/threonine-protein kinase PLK4 10733 reviewed Kinase
O14733 BXGT004087 Dual specificity mitogen-activated protein kinase kinase 7 5609 reviewed Kinase
O95237 BXGT005361 Lecithin retinol acyltransferase 9227 reviewed
P00338 BXGT005504 L-lactate dehydrogenase A chain 3939 reviewed Enzyme
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P01031 BXGT005720 Complement C5 727 reviewed Enzyme modulator
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03905 BXGT006113 NADH-ubiquinone oxidoreductase chain 4 4538 reviewed Enzyme
P03915 BXGT006114 NADH-ubiquinone oxidoreductase chain 5 4540 reviewed Enzyme
P03923 BXGT006115 NADH-ubiquinone oxidoreductase chain 6 4541 reviewed
P05556 BXGT006368 Integrin beta-1 3688 reviewed Receptor
P06703 BXGT006477 Protein S100-A6 6277 reviewed Calcium-binding protein
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P07996 BXGT006710 Thrombospondin-1 7057 reviewed
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P20839 BXGT008608 Inosine-5'-monophosphate dehydrogenase 1 3614 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P21730 BXGT008687 C5a anaphylatoxin chemotactic receptor 1 728 reviewed G-protein coupled receptor
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P29074 BXGT009313 Tyrosine-protein phosphatase non-receptor type 4 5775 reviewed
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P35579 BXGT009852 Myosin-9 4627 reviewed
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P46937 BXGT010554 Transcriptional coactivator YAP1 10413 reviewed Enzyme modulator
P46940 BXGT010556 Ras GTPase-activating-like protein IQGAP1 8826 reviewed Enzyme modulator
P49585 BXGT010712 Choline-phosphate cytidylyltransferase A 5130 reviewed
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P50993 BXGT010826 Sodium/potassium-transporting ATPase subunit alpha-2 477 reviewed Transporter
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P54764 BXGT011078 Ephrin type-A receptor 4 2043 reviewed Kinase
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P61006 BXGT011345 Ras-related protein Rab-8A 4218 reviewed
P61586 BXGT011375 Transforming protein RhoA 387 reviewed Enzyme modulator
P68363 BXGT011594 Tubulin alpha-1B chain 10376 reviewed Cellular structure
P82279 BXGT011972 Protein crumbs homolog 1 23418 reviewed
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q01968 BXGT012626 Inositol polyphosphate 5-phosphatase OCRL-1 4952 reviewed Enzyme
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q8NEB9 BXGT018553 Phosphatidylinositol 3-kinase catalytic subunit type 3 5289 reviewed Kinase
Q8NFU5 BXGT018564 Inositol polyphosphate multikinase 253430 reviewed Kinase
Q8TF61 BXGT018824 F-box only protein 41 150726 reviewed
Q96LA8 BXGT019691 Protein arginine N-methyltransferase 6 55170 reviewed Epigenetic regulator
Q96NR8 BXGT019701 Retinol dehydrogenase 12 145226 reviewed Enzyme
Q9H4W6 BXGT020478 Transcription factor COE3 253738 reviewed
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9NY65 BXGT021252 Tubulin alpha-8 chain 51807 reviewed Cellular structure
Q9NYB9 BXGT021256 Abl interactor 2 10152 reviewed Enzyme modulator
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9UDY8 BXGT021670 Mucosa-associated lymphoid tissue lymphoma translocation protein 1 10892 reviewed Enzyme
Q9UGJ1 BXGT021684 Gamma-tubulin complex component 4 27229 reviewed Cellular structure
Q96KN7 BXGT022801 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 57096 reviewed Enzyme modulator
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
Q8IZA0 BXGT025026 Dyslexia-associated protein KIAA0319-like protein 79932 reviewed
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 reviewed Enzyme
V9HWB9 BXGT026149 L-lactate dehydrogenase 3939 unreviewed
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