Showing entry for Infantile muscular hypotonia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD016006
Disease NameInfantile muscular hypotonia
Disease CUI IdC1860834
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
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O75306 BXGT005108 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial 4720 reviewed Enzyme
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O95169 BXGT005356 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial 4714 reviewed Enzyme
P00846 BXGT005674 ATP synthase subunit a 4508 reviewed Transporter
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03891 BXGT006110 NADH-ubiquinone oxidoreductase chain 2 4536 reviewed
P03897 BXGT006111 NADH-ubiquinone oxidoreductase chain 3 4537 reviewed
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
P15735 BXGT008151 Phosphorylase b kinase gamma catalytic chain, liver/testis isoform 5261 reviewed Kinase
P22309 BXGT008753 UDP-glucuronosyltransferase 1-1 54658 reviewed
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P23526 BXGT008878 Adenosylhomocysteinase 191 reviewed Enzyme
P46019 BXGT010498 Phosphorylase b kinase regulatory subunit alpha, liver isoform 5256 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P49748 BXGT010733 Very long-chain specific acyl-CoA dehydrogenase, mitochondrial 37 reviewed Enzyme
P51687 BXGT010882 Sulfite oxidase, mitochondrial 6821 reviewed
P52788 BXGT010953 Spermine synthase 6611 reviewed
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P57059 BXGT011210 Serine/threonine-protein kinase SIK1 150094 reviewed
P58400 BXGT011235 Neurexin-1-beta 9378 reviewed
P61978 BXGT011399 Heterogeneous nuclear ribonucleoprotein K 3190 reviewed Enzyme
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
Q09470 BXGT013037 Potassium voltage-gated channel subfamily A member 1 3736 reviewed Ion channel
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q14353 BXGT013463 Guanidinoacetate N-methyltransferase 2593 reviewed
Q8N159 BXGT018496 N-acetylglutamate synthase, mitochondrial 162417 reviewed
Q96J02 BXGT019679 E3 ubiquitin-protein ligase Itchy homolog 83737 reviewed Enzyme
Q96PY6 BXGT019712 Serine/threonine-protein kinase Nek1 4750 reviewed Kinase
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q9BU61 BXGT020131 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 25915 reviewed
Q9BVA1 BXGT020142 Tubulin beta-2B chain 347733 reviewed
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9NS87 BXGT021201 Kinesin-like protein KIF15 56992 reviewed Cellular structure
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
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