Showing entry for Severe Congenital Microcephaly


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD019819
Disease NameSevere Congenital Microcephaly
Disease CUI IdC3853041
MeSH Codes C16   C05   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome; Congenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
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
O00139 BXGT003881 Kinesin-like protein KIF2A 3796 reviewed Cellular structure
O00189 BXGT003891 AP-4 complex subunit mu-1 9179 reviewed Extracellular structure
O00429 BXGT003919 Dynamin-1-like protein 10059 reviewed Enzyme modulator
O00444 BXGT003921 Serine/threonine-protein kinase PLK4 10733 reviewed Kinase
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P23258 BXGT008843 Tubulin gamma-1 chain 7283 reviewed Cellular structure
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q13415 BXGT013350 Origin recognition complex subunit 1 4998 reviewed Nucleic acid binding
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
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