Showing entry for Cerebellar Hypoplasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005678
Disease NameCerebellar Hypoplasia
Disease CUI IdC0266470
MeSH Codes C16   C10   F03  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
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
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O14578 BXGT004072 Citron Rho-interacting kinase 11113 reviewed Kinase
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15146 BXGT004131 Muscle, skeletal receptor tyrosine-protein kinase 4593 reviewed Kinase
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O43497 BXGT004596 Voltage-dependent T-type calcium channel subunit alpha-1G 8913 reviewed Ion channel
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O94811 BXGT005336 Tubulin polymerization-promoting protein 11076 reviewed Cellular structure
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P01236 BXGT005744 Prolactin 5617 reviewed Signaling
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02462 BXGT005881 Collagen alpha-1(IV) chain 1282 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P18405 BXGT008400 3-oxo-5-alpha-steroid 4-dehydrogenase 1 6715 reviewed Enzyme
P20930 BXGT008616 Filaggrin 2312 reviewed Cellular structure
P21333 BXGT008638 Filamin-A 2316 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P23526 BXGT008878 Adenosylhomocysteinase 191 reviewed Enzyme
P25705 BXGT009060 ATP synthase subunit alpha, mitochondrial 498 reviewed Transporter
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P36507 BXGT009923 Dual specificity mitogen-activated protein kinase kinase 2 5605 reviewed Kinase
P36969 BXGT009949 Phospholipid hydroperoxide glutathione peroxidase 2879 reviewed Enzyme
P42356 BXGT010305 Phosphatidylinositol 4-kinase alpha 5297 reviewed Kinase
P43003 BXGT010347 Excitatory amino acid transporter 1 6507 reviewed Transporter
P56556 BXGT011179 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 4700 reviewed Enzyme
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
P80404 BXGT011907 4-aminobutyrate aminotransferase, mitochondrial 18 reviewed Enzyme
P98155 BXGT012226 Very low-density lipoprotein receptor 7436 reviewed
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q02224 BXGT012643 Centromere-associated protein E 1062 reviewed Cellular structure
Q02643 BXGT012660 Growth hormone-releasing hormone receptor 2692 reviewed G-protein coupled receptor
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q05397 BXGT012815 Focal adhesion kinase 1 5747 reviewed Kinase
Q13394 BXGT013347 Putative nucleotidyltransferase MAB21L1 4081 reviewed
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q15233 BXGT013552 Non-POU domain-containing octamer-binding protein 4841 reviewed Nucleic acid binding
Q53EZ4 BXGT015010 Centrosomal protein of 55 kDa 55165 reviewed
Q6NUK1 BXGT016429 Calcium-binding mitochondrial carrier protein SCaMC-1 29957 reviewed Transporter
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q969G3 BXGT019607 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 6605 reviewed
Q96S44 BXGT019738 EKC/KEOPS complex subunit TP53RK 112858 reviewed Kinase
Q99986 BXGT019980 Serine/threonine-protein kinase VRK1 7443 reviewed Kinase
Q9BVA1 BXGT020142 Tubulin beta-2B chain 347733 reviewed
Q9HA77 BXGT020504 Probable cysteine--tRNA ligase, mitochondrial 79587 reviewed Enzyme
Q9HD40 BXGT020542 O-phosphoseryl-tRNA(Sec) selenium transferase 51091 reviewed
Q9HD42 BXGT020543 Charged multivesicular body protein 1a 5119 reviewed
Q9NQX3 BXGT021172 Gephyrin 10243 reviewed
Q9UBN7 BXGT021658 Histone deacetylase 6 10013 reviewed Epigenetic regulator
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
Q9Y2H9 BXGT022234 Microtubule-associated serine/threonine-protein kinase 1 22983 reviewed Kinase
Q9Y4I1 BXGT022278 Unconventional myosin-Va 4644 reviewed Cellular structure
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q9Y5W7 BXGT022783 Sorting nexin-14 57231 reviewed Enzyme modulator
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
Q9UNE7 BXGT025000 E3 ubiquitin-protein ligase CHIP 10273 reviewed
Q9Y4W6 BXGT025025 AFG3-like protein 2 10939 reviewed Enzyme
Q96MS0 BXGT025241 Roundabout homolog 3 64221 reviewed Receptor
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