Showing entry for Profound global developmental delay


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD019175
Disease NameProfound global developmental delay
Disease CUI IdC3553450
MeSH Codes   
Disease Class Name
Semantic TypeDisease or Syndrome
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
O15553 BXGT004181 Pyrin 4210 reviewed
O43766 BXGT004622 Lipoyl synthase, mitochondrial 11019 reviewed
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
O95363 BXGT005375 Phenylalanine--tRNA ligase, mitochondrial 10667 reviewed Enzyme
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P30153 BXGT009409 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform 5518 reviewed Enzyme
P37268 BXGT009975 Squalene synthase 2222 reviewed
P42263 BXGT010295 Glutamate receptor 3 2892 reviewed Ion channel
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q13554 BXGT013374 Calcium/calmodulin-dependent protein kinase type II subunit beta 816 reviewed Kinase
Q7L3T8 BXGT016994 Probable proline--tRNA ligase, mitochondrial 25973 reviewed Enzyme
Q96RE7 BXGT019725 Nucleus accumbens-associated protein 1 112939 reviewed
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 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