Showing entry for Severe muscular hypotonia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD014391
Disease NameSevere muscular hypotonia
Disease CUI IdC1839630
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
O75380 BXGT005120 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial 4726 reviewed Enzyme
O75746 BXGT005148 Calcium-binding mitochondrial carrier protein Aralar1 8604 reviewed Transporter
O95831 BXGT005399 Apoptosis-inducing factor 1, mitochondrial 9131 reviewed Enzyme
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P06753 BXGT006498 Tropomyosin alpha-3 chain 7170 reviewed Cellular structure
P22314 BXGT008755 Ubiquitin-like modifier-activating enzyme 1 7317 reviewed Enzyme
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P68133 BXGT011578 Actin, alpha skeletal muscle 58 reviewed Cellular structure
P80404 BXGT011907 4-aminobutyrate aminotransferase, mitochondrial 18 reviewed Enzyme
Q05586 BXGT012826 Glutamate receptor ionotropic, NMDA 1 2902 reviewed Ion channel
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q8TCS8 BXGT018799 Polyribonucleotide nucleotidyltransferase 1, mitochondrial 87178 reviewed Enzyme
Q8TD30 BXGT018805 Alanine aminotransferase 2 84706 reviewed Enzyme
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q9BY32 BXGT020179 Inosine triphosphate pyrophosphatase 3704 reviewed Enzyme
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9HA77 BXGT020504 Probable cysteine--tRNA ligase, mitochondrial 79587 reviewed Enzyme
Q9HD40 BXGT020542 O-phosphoseryl-tRNA(Sec) selenium transferase 51091 reviewed
Q9NWM8 BXGT021233 Peptidyl-prolyl cis-trans isomerase FKBP14 55033 reviewed
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
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