Showing entry for Hypoplasia of corpus callosum


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD007678
Disease NameHypoplasia of corpus callosum
Disease CUI IdC0344482
MeSH Codes C23   C16   C10  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, 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
O00139 BXGT003881 Kinesin-like protein KIF2A 3796 reviewed Cellular structure
O00189 BXGT003891 AP-4 complex subunit mu-1 9179 reviewed Extracellular structure
O00459 BXGT003924 Phosphatidylinositol 3-kinase regulatory subunit beta 5296 reviewed Enzyme modulator
O00571 BXGT003938 ATP-dependent RNA helicase DDX3X 1654 reviewed
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O43464 BXGT004595 Serine protease HTRA2, mitochondrial 27429 reviewed
O43678 BXGT004613 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 4695 reviewed Enzyme
O43914 BXGT004635 TYRO protein tyrosine kinase-binding protein 7305 reviewed
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O60341 BXGT004873 Lysine-specific histone demethylase 1A 23028 reviewed Epigenetic regulator
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O95831 BXGT005399 Apoptosis-inducing factor 1, mitochondrial 9131 reviewed Enzyme
O96007 BXGT005413 Molybdopterin synthase catalytic subunit 4338 reviewed
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P07602 BXGT006646 Prosaposin 5660 reviewed
P07814 BXGT006680 Bifunctional glutamate/proline--tRNA ligase 2058 reviewed Enzyme
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P14868 BXGT008062 Aspartate--tRNA ligase, cytoplasmic 1615 reviewed Enzyme
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15104 BXGT008081 Glutamine synthetase 2752 reviewed Enzyme
P15311 BXGT008106 Ezrin 7430 reviewed Cellular structure
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P18505 BXGT008409 Gamma-aminobutyric acid receptor subunit beta-1 2560 reviewed Ion channel
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P23526 BXGT008878 Adenosylhomocysteinase 191 reviewed Enzyme
P26640 BXGT009123 Valine--tRNA ligase 7407 reviewed
P30153 BXGT009409 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform 5518 reviewed Enzyme
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P33176 BXGT009699 Kinesin-1 heavy chain 3799 reviewed Cellular structure
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P36507 BXGT009923 Dual specificity mitogen-activated protein kinase kinase 2 5605 reviewed Kinase
P40926 BXGT010207 Malate dehydrogenase, mitochondrial 4191 reviewed Enzyme
P42263 BXGT010295 Glutamate receptor 3 2892 reviewed Ion channel
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P43004 BXGT010348 Excitatory amino acid transporter 2 6506 reviewed Transporter
P43007 BXGT010350 Neutral amino acid transporter A 6509 reviewed Transporter
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P48058 BXGT010614 Glutamate receptor 4 2893 reviewed Ion channel
P48067 BXGT010619 Sodium- and chloride-dependent glycine transporter 1 6536 reviewed Transporter
P49591 BXGT010715 Serine--tRNA ligase, cytoplasmic 6301 reviewed Enzyme
P49902 BXGT010758 Cytosolic purine 5'-nucleotidase 22978 reviewed Enzyme
P50135 BXGT010776 Histamine N-methyltransferase 3176 reviewed
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51688 BXGT010883 N-sulphoglucosamine sulphohydrolase 6448 reviewed Enzyme
P54136 BXGT011033 Arginine--tRNA ligase, cytoplasmic 5917 reviewed
P55201 BXGT011109 Peregrin 7862 reviewed
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P55789 BXGT011126 FAD-linked sulfhydryl oxidase ALR 2671 reviewed Enzyme
P57059 BXGT011210 Serine/threonine-protein kinase SIK1 150094 reviewed
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P62258 BXGT011415 14-3-3 protein epsilon 7531 reviewed Chaperone
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
P67775 BXGT011563 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform 5515 reviewed
Q01959 BXGT012624 Sodium-dependent dopamine transporter 6531 reviewed Transporter
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q05586 BXGT012826 Glutamate receptor ionotropic, NMDA 1 2902 reviewed Ion channel
Q09470 BXGT013037 Potassium voltage-gated channel subfamily A member 1 3736 reviewed Ion channel
Q11203 BXGT013218 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase 6487 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q13002 BXGT013303 Glutamate receptor ionotropic, kainate 2 2898 reviewed Ion channel
Q13085 BXGT013309 Acetyl-CoA carboxylase 1 31 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q13586 BXGT013380 Stromal interaction molecule 1 6786 reviewed
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q13885 BXGT013400 Tubulin beta-2A chain 7280 reviewed Cellular structure
Q14004 BXGT013435 Cyclin-dependent kinase 13 8621 reviewed Kinase
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q14831 BXGT013506 Metabotropic glutamate receptor 7 2917 reviewed G-protein coupled receptor
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q15233 BXGT013552 Non-POU domain-containing octamer-binding protein 4841 reviewed Nucleic acid binding
Q15811 BXGT013600 Intersectin-1 6453 reviewed Enzyme modulator
Q5JPH6 BXGT015456 Probable glutamate--tRNA ligase, mitochondrial 124454 reviewed Enzyme
Q6NUK1 BXGT016429 Calcium-binding mitochondrial carrier protein SCaMC-1 29957 reviewed Transporter
Q6PI48 BXGT016471 Aspartate--tRNA ligase, mitochondrial 55157 reviewed Enzyme
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q7L266 BXGT016993 Isoaspartyl peptidase/L-asparaginase 80150 reviewed Enzyme
Q7L3T8 BXGT016994 Probable proline--tRNA ligase, mitochondrial 25973 reviewed Enzyme
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q86SX6 BXGT017601 Glutaredoxin-related protein 5, mitochondrial 51218 reviewed Enzyme
Q86SZ2 BXGT017602 Trafficking protein particle complex subunit 6B 122553 reviewed
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8TD30 BXGT018805 Alanine aminotransferase 2 84706 reviewed Enzyme
Q8TE04 BXGT018818 Pantothenate kinase 1 53354 reviewed Kinase
Q969G3 BXGT019607 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 6605 reviewed
Q96BZ9 BXGT019629 TBC1 domain family member 20 128637 reviewed
Q96C36 BXGT019631 Pyrroline-5-carboxylate reductase 2 29920 reviewed
Q96I59 BXGT019675 Probable asparagine--tRNA ligase, mitochondrial 79731 reviewed Enzyme
Q96SW2 BXGT019743 Protein cereblon 51185 reviewed Enzyme
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q99798 BXGT019962 Aconitate hydratase, mitochondrial 50 reviewed Enzyme
Q9BVA1 BXGT020142 Tubulin beta-2B chain 347733 reviewed
Q9BW92 BXGT020151 Threonine--tRNA ligase, mitochondrial 80222 reviewed Enzyme
Q9BXM7 BXGT020172 Serine/threonine-protein kinase PINK1, mitochondrial 65018 reviewed Kinase
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9HA77 BXGT020504 Probable cysteine--tRNA ligase, mitochondrial 79587 reviewed Enzyme
Q9HCG7 BXGT020533 Non-lysosomal glucosylceramidase 57704 reviewed
Q9HD40 BXGT020542 O-phosphoseryl-tRNA(Sec) selenium transferase 51091 reviewed
Q9HD42 BXGT020543 Charged multivesicular body protein 1a 5119 reviewed
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NY46 BXGT021248 Sodium channel protein type 3 subunit alpha 6328 reviewed Ion channel
Q9NZJ4 BXGT021274 Sacsin 26278 reviewed
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UGL1 BXGT021685 Lysine-specific demethylase 5B 10765 reviewed Epigenetic regulator
Q9UGM6 BXGT021687 Tryptophan--tRNA ligase, mitochondrial 10352 reviewed
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UHY7 BXGT021709 Enolase-phosphatase E1 58478 reviewed Enzyme
Q9UKE5 BXGT021741 TRAF2 and NCK-interacting protein kinase 23043 reviewed Kinase
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9UPN3 BXGT021797 Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 23499 reviewed Cellular structure
Q9UPT6 BXGT021801 C-Jun-amino-terminal kinase-interacting protein 3 23162 reviewed Enzyme modulator
Q9Y243 BXGT022214 RAC-gamma serine/threonine-protein kinase 10000 reviewed Kinase
Q9Y263 BXGT022220 Phospholipase A-2-activating protein 9373 reviewed Enzyme modulator
Q9Y3I1 BXGT022260 F-box only protein 7 25793 reviewed
Q9Y3Z3 BXGT022268 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 25939 reviewed
Q9Y5X0 BXGT022305 Sorting nexin-10 29887 reviewed
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q96C86 BXGT022803 m7GpppX diphosphatase 28960 reviewed Enzyme
Q5FWF4 BXGT023211 DNA annealing helicase and endonuclease ZRANB3 84083 reviewed
Q92785 BXGT023424 Zinc finger protein ubi-d4 5977 reviewed Enzyme
Q9UBP0 BXGT023601 Spastin 6683 reviewed Cellular structure
Q9NPF4 BXGT024113 Probable tRNA N6-adenosine threonylcarbamoyltransferase 55644 reviewed Enzyme
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 reviewed Epigenetic regulator
Q9H0W8 BXGT024746 Protein SMG9 56006 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q96S38 BXGT026126 Ribosomal protein S6 kinase delta-1 26750 reviewed Kinase
P09471 BXGT026153 Guanine nucleotide-binding protein G(o) subunit alpha 2775 reviewed Enzyme modulator
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