Showing entry for Muscular hypotonia of the trunk


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015358
Disease NameMuscular hypotonia of the trunk
Disease CUI IdC1853743
MeSH Codes C23   C10  
Disease Class NamePathological Conditions, Signs and Symptoms; Nervous System Diseases
Semantic TypeFinding
Human Phenotype Ontology Id HP:0003011  
Human Phenotype Ontology TermAbnormality of the musculature
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
O00459 BXGT003924 Phosphatidylinositol 3-kinase regulatory subunit beta 5296 reviewed Enzyme modulator
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15239 BXGT004139 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 4694 reviewed
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O15399 BXGT004164 Glutamate receptor ionotropic, NMDA 2D 2906 reviewed Ion channel
O43497 BXGT004596 Voltage-dependent T-type calcium channel subunit alpha-1G 8913 reviewed Ion channel
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
O75306 BXGT005108 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial 4720 reviewed Enzyme
O94925 BXGT005342 Glutaminase kidney isoform, mitochondrial 2744 reviewed Enzyme
O95363 BXGT005375 Phenylalanine--tRNA ligase, mitochondrial 10667 reviewed Enzyme
O95622 BXGT005386 Adenylate cyclase type 5 111 reviewed
P01308 BXGT005749 Insulin 3630 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P05165 BXGT006334 Propionyl-CoA carboxylase alpha chain, mitochondrial 5095 reviewed Enzyme
P05166 BXGT006335 Propionyl-CoA carboxylase beta chain, mitochondrial 5096 reviewed Enzyme
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P13637 BXGT007933 Sodium/potassium-transporting ATPase subunit alpha-3 478 reviewed Transporter
P14868 BXGT008062 Aspartate--tRNA ligase, cytoplasmic 1615 reviewed Enzyme
P17900 BXGT008353 Ganglioside GM2 activator 2760 reviewed Transporter
P20711 BXGT008594 Aromatic-L-amino-acid decarboxylase 1644 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35270 BXGT009807 Sepiapterin reductase 6697 reviewed
P35557 BXGT009846 Glucokinase 2645 reviewed Kinase
P42263 BXGT010295 Glutamate receptor 3 2892 reviewed Ion channel
P42858 BXGT010341 Huntingtin 3064 reviewed
P48067 BXGT010619 Sodium- and chloride-dependent glycine transporter 1 6536 reviewed Transporter
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
P63027 BXGT011487 Vesicle-associated membrane protein 2 6844 reviewed
Q01959 BXGT012624 Sodium-dependent dopamine transporter 6531 reviewed Transporter
Q03393 BXGT012711 6-pyruvoyl tetrahydrobiopterin synthase 5805 reviewed
Q05940 BXGT012846 Synaptic vesicular amine transporter 6571 reviewed Transporter
Q09428 BXGT013036 ATP-binding cassette sub-family C member 8 6833 reviewed Transporter
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q13936 BXGT013404 Voltage-dependent L-type calcium channel subunit alpha-1C 775 reviewed Ion channel
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14654 BXGT013495 ATP-sensitive inward rectifier potassium channel 11 3767 reviewed Ion channel
Q7L3T8 BXGT016994 Probable proline--tRNA ligase, mitochondrial 25973 reviewed Enzyme
Q8TCS8 BXGT018799 Polyribonucleotide nucleotidyltransferase 1, mitochondrial 87178 reviewed Enzyme
Q96C36 BXGT019631 Pyrroline-5-carboxylate reductase 2 29920 reviewed
Q96MG7 BXGT019696 Non-structural maintenance of chromosomes element 3 homolog 56160 reviewed Cell adhesion
Q96PU5 BXGT019711 E3 ubiquitin-protein ligase NEDD4-like 23327 reviewed Enzyme
Q99653 BXGT019945 Calcineurin B homologous protein 1 11261 reviewed
Q9BW92 BXGT020151 Threonine--tRNA ligase, mitochondrial 80222 reviewed Enzyme
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9HD42 BXGT020543 Charged multivesicular body protein 1a 5119 reviewed
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NQX3 BXGT021172 Gephyrin 10243 reviewed
Q9NVS9 BXGT021228 Pyridoxine-5'-phosphate oxidase 55163 reviewed Enzyme
Q9NX14 BXGT021242 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial 54539 reviewed Enzyme
Q9NY47 BXGT021249 Voltage-dependent calcium channel subunit alpha-2/delta-2 9254 reviewed Ion channel
Q9UGM6 BXGT021687 Tryptophan--tRNA ligase, mitochondrial 10352 reviewed
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y233 BXGT022210 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A 10846 reviewed
Q9Y234 BXGT022211 Lipoyltransferase 1, mitochondrial 51601 reviewed Enzyme
Q9Y3C8 BXGT022256 Ubiquitin-fold modifier-conjugating enzyme 1 51506 reviewed
Q9Y3Z3 BXGT022268 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 25939 reviewed
Q9Y5P4 BXGT022298 Collagen type IV alpha-3-binding protein 10087 reviewed Transporter
Q15878 BXGT022659 Voltage-dependent R-type calcium channel subunit alpha-1E 777 reviewed Ion channel
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
P49366 BXGT025175 Deoxyhypusine synthase 1725 reviewed
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
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