Showing entry for Polymicrogyria



                               
General Disease Information
BXGD IdBXGD005676
Disease NamePolymicrogyria
Disease CUI IdC0266464
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
A4D126 BXGT001208 D-ribitol-5-phosphate cytidylyltransferase 729920 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O00459 BXGT003924 Phosphatidylinositol 3-kinase regulatory subunit beta 5296 reviewed Enzyme modulator
O00571 BXGT003938 ATP-dependent RNA helicase DDX3X 1654 reviewed
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O75173 BXGT005105 A disintegrin and metalloproteinase with thrombospondin motifs 4 9507 reviewed Enzyme
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02462 BXGT005881 Collagen alpha-1(IV) chain 1282 reviewed
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P07858 BXGT006689 Cathepsin B 1508 reviewed Enzyme
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P15311 BXGT008106 Ezrin 7430 reviewed Cellular structure
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P21333 BXGT008638 Filamin-A 2316 reviewed
P23786 BXGT008906 Carnitine O-palmitoyltransferase 2, mitochondrial 1376 reviewed Enzyme
P30279 BXGT009415 G1/S-specific cyclin-D2 894 reviewed Enzyme modulator
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P39060 BXGT010088 Collagen alpha-1(XVIII) chain 80781 reviewed
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42356 BXGT010305 Phosphatidylinositol 4-kinase alpha 5297 reviewed Kinase
P46821 BXGT010542 Microtubule-associated protein 1B 4131 reviewed Cellular structure
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49411 BXGT010703 Elongation factor Tu, mitochondrial 7284 reviewed Enzyme
P49591 BXGT010715 Serine--tRNA ligase, cytoplasmic 6301 reviewed Enzyme
P50135 BXGT010776 Histamine N-methyltransferase 3176 reviewed
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P50993 BXGT010826 Sodium/potassium-transporting ATPase subunit alpha-2 477 reviewed Transporter
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
P68363 BXGT011594 Tubulin alpha-1B chain 10376 reviewed Cellular structure
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q03405 BXGT012713 Urokinase plasminogen activator surface receptor 5329 reviewed
Q05586 BXGT012826 Glutamate receptor ionotropic, NMDA 1 2902 reviewed Ion channel
Q11203 BXGT013218 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase 6487 reviewed
Q13002 BXGT013303 Glutamate receptor ionotropic, kainate 2 2898 reviewed Ion channel
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
Q15392 BXGT013566 Delta(24)-sterol reductase 1718 reviewed Enzyme
Q15811 BXGT013600 Intersectin-1 6453 reviewed Enzyme modulator
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q96PU5 BXGT019711 E3 ubiquitin-protein ligase NEDD4-like 23327 reviewed Enzyme
Q96S44 BXGT019738 EKC/KEOPS complex subunit TP53RK 112858 reviewed Kinase
Q96SW2 BXGT019743 Protein cereblon 51185 reviewed Enzyme
Q9BVA1 BXGT020142 Tubulin beta-2B chain 347733 reviewed
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9H9B1 BXGT020501 Histone-lysine N-methyltransferase EHMT1 79813 reviewed Epigenetic regulator
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NQX3 BXGT021172 Gephyrin 10243 reviewed
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9NY46 BXGT021248 Sodium channel protein type 3 subunit alpha 6328 reviewed Ion channel
Q9NY65 BXGT021252 Tubulin alpha-8 chain 51807 reviewed Cellular structure
Q9UGL1 BXGT021685 Lysine-specific demethylase 5B 10765 reviewed Epigenetic regulator
Q9UGM6 BXGT021687 Tryptophan--tRNA ligase, mitochondrial 10352 reviewed
Q9UKE5 BXGT021741 TRAF2 and NCK-interacting protein kinase 23043 reviewed Kinase
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9Y243 BXGT022214 RAC-gamma serine/threonine-protein kinase 10000 reviewed Kinase
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q96C86 BXGT022803 m7GpppX diphosphatase 28960 reviewed Enzyme
P07954 BXGT023939 Fumarate hydratase, mitochondrial 2271 reviewed Enzyme
Q14657 BXGT024111 EKC/KEOPS complex subunit LAGE3 8270 reviewed
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
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