Showing entry for Progressive microcephaly



                               
General Disease Information
BXGD IdBXGD015146
Disease NameProgressive microcephaly
Disease CUI IdC1850456
MeSH Codes   
Disease Class Name
Semantic TypeFinding
Human Phenotype Ontology Id HP:0000707   HP:0000152   HP:0000924  
Human Phenotype Ontology TermAbnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal 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
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P26640 BXGT009123 Valine--tRNA ligase 7407 reviewed
P27635 BXGT009194 60S ribosomal protein L10 6134 reviewed Nucleic acid binding
P35658 BXGT009859 Nuclear pore complex protein Nup214 8021 reviewed Nucleic acid binding
P43007 BXGT010350 Neutral amino acid transporter A 6509 reviewed Transporter
P50897 BXGT010823 Palmitoyl-protein thioesterase 1 5538 reviewed Enzyme
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q86SZ2 BXGT017602 Trafficking protein particle complex subunit 6B 122553 reviewed
Q96C36 BXGT019631 Pyrroline-5-carboxylate reductase 2 29920 reviewed
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99798 BXGT019962 Aconitate hydratase, mitochondrial 50 reviewed Enzyme
Q9HD40 BXGT020542 O-phosphoseryl-tRNA(Sec) selenium transferase 51091 reviewed
Q9NVS9 BXGT021228 Pyridoxine-5'-phosphate oxidase 55163 reviewed Enzyme
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y263 BXGT022220 Phospholipase A-2-activating protein 9373 reviewed Enzyme modulator
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
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