Showing entry for Microcephaly (physical finding)


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD023351
Disease NameMicrocephaly (physical finding)
Disease CUI IdC4551563
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
O00189 BXGT003891 AP-4 complex subunit mu-1 9179 reviewed Extracellular structure
O00571 BXGT003938 ATP-dependent RNA helicase DDX3X 1654 reviewed
O14578 BXGT004072 Citron Rho-interacting kinase 11113 reviewed Kinase
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O15553 BXGT004181 Pyrin 4210 reviewed
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11233 BXGT007678 Ras-related protein Ral-A 5898 reviewed Enzyme modulator
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P20930 BXGT008616 Filaggrin 2312 reviewed Cellular structure
P26640 BXGT009123 Valine--tRNA ligase 7407 reviewed
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P30153 BXGT009409 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform 5518 reviewed Enzyme
P32322 BXGT009624 Pyrroline-5-carboxylate reductase 1, mitochondrial 5831 reviewed
P35219 BXGT009797 Carbonic anhydrase-related protein 767 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P49638 BXGT010720 Alpha-tocopherol transfer protein 7274 reviewed Transporter
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P51531 BXGT010851 Probable global transcription activator SNF2L2 6595 reviewed Epigenetic regulator
P52732 BXGT010948 Kinesin-like protein KIF11 3832 reviewed Cellular structure
P54886 BXGT011092 Delta-1-pyrroline-5-carboxylate synthase 5832 reviewed Enzyme
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P61978 BXGT011399 Heterogeneous nuclear ribonucleoprotein K 3190 reviewed Enzyme
P78508 BXGT011845 ATP-sensitive inward rectifier potassium channel 10 3766 reviewed Ion channel
Q02241 BXGT012644 Kinesin-like protein KIF23 9493 reviewed Cellular structure
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q12830 BXGT013268 Nucleosome-remodeling factor subunit BPTF 2186 reviewed
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q13554 BXGT013374 Calcium/calmodulin-dependent protein kinase type II subunit beta 816 reviewed Kinase
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q16620 BXGT013645 BDNF/NT-3 growth factors receptor 4915 reviewed Kinase
Q92794 BXGT019375 Histone acetyltransferase KAT6A 7994 reviewed Enzyme
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
Q9BQP7 BXGT020114 Mitochondrial genome maintenance exonuclease 1 92667 reviewed
Q9BVA1 BXGT020142 Tubulin beta-2B chain 347733 reviewed
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9H9B1 BXGT020501 Histone-lysine N-methyltransferase EHMT1 79813 reviewed Epigenetic regulator
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y263 BXGT022220 Phospholipase A-2-activating protein 9373 reviewed Enzyme modulator
O95140 BXGT024482 Mitofusin-2 9927 reviewed Enzyme
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
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