Showing entry for Autosomal Recessive Primary Microcephaly


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD019391
Disease NameAutosomal Recessive Primary Microcephaly
Disease CUI IdC3711387
MeSH Codes C16   C05   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7   DOID:0080015  
Disease Ontology Class Namegenetic disease; disease of anatomical entity; physical disorder
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
O14578 BXGT004072 Citron Rho-interacting kinase 11113 reviewed Kinase
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P54132 BXGT011032 Bloom syndrome protein 641 reviewed
Q00534 BXGT012533 Cyclin-dependent kinase 6 1021 reviewed Kinase
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q8NEM0 BXGT018555 Microcephalin 79648 reviewed Nucleic acid binding
Q8NG31 BXGT018565 Kinetochore scaffold 1 57082 reviewed
Q96C36 BXGT019631 Pyrroline-5-carboxylate reductase 2 29920 reviewed
Q6UVJ0 BXGT026024 Spindle assembly abnormal protein 6 homolog 163786 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