Showing entry for Severe global developmental delay


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD014227
Disease NameSevere global developmental delay
Disease CUI IdC1837397
MeSH Codes   
Disease Class Name
Semantic TypeFinding
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
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O43766 BXGT004622 Lipoyl synthase, mitochondrial 11019 reviewed
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
P00167 BXGT005473 Cytochrome b5 1528 reviewed Enzyme
P00387 BXGT005525 NADH-cytochrome b5 reductase 3 1727 reviewed
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
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P10826 BXGT007622 Retinoic acid receptor beta 5915 reviewed Nuclear receptor
P15104 BXGT008081 Glutamine synthetase 2752 reviewed Enzyme
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P18507 BXGT008411 Gamma-aminobutyric acid receptor subunit gamma-2 2566 reviewed Ion channel
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P30566 BXGT009446 Adenylosuccinate lyase 158 reviewed Enzyme
P36021 BXGT009893 Monocarboxylate transporter 8 6567 reviewed Transporter
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P48051 BXGT010611 G protein-activated inward rectifier potassium channel 2 3763 reviewed Ion channel
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P55263 BXGT011115 Adenosine kinase 132 reviewed Kinase
P58400 BXGT011235 Neurexin-1-beta 9378 reviewed
P80404 BXGT011907 4-aminobutyrate aminotransferase, mitochondrial 18 reviewed Enzyme
Q02809 BXGT012674 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 5351 reviewed Enzyme
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q12830 BXGT013268 Nucleosome-remodeling factor subunit BPTF 2186 reviewed
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q13885 BXGT013400 Tubulin beta-2A chain 7280 reviewed Cellular structure
Q14353 BXGT013463 Guanidinoacetate N-methyltransferase 2593 reviewed
Q15067 BXGT013532 Peroxisomal acyl-coenzyme A oxidase 1 51 reviewed Enzyme
Q16620 BXGT013645 BDNF/NT-3 growth factors receptor 4915 reviewed Kinase
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q92979 BXGT019402 Ribosomal RNA small subunit methyltransferase NEP1 10436 reviewed Nucleic acid binding
Q99757 BXGT019959 Thioredoxin, mitochondrial 25828 reviewed Enzyme
Q99798 BXGT019962 Aconitate hydratase, mitochondrial 50 reviewed Enzyme
Q9HD40 BXGT020542 O-phosphoseryl-tRNA(Sec) selenium transferase 51091 reviewed
Q9NS87 BXGT021201 Kinesin-like protein KIF15 56992 reviewed Cellular structure
Q9NY65 BXGT021252 Tubulin alpha-8 chain 51807 reviewed Cellular structure
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
P28715 BXGT025675 DNA repair protein complementing XP-G cells 2073 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