Showing entry for Megalencephaly cutis marmorata telangiectatica congenita


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD016304
Disease NameMegalencephaly cutis marmorata telangiectatica congenita
Disease CUI IdC1865285
MeSH Codes C16   C17   C05   C10   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Semantic TypeDisease or Syndrome
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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O00459 BXGT003924 Phosphatidylinositol 3-kinase regulatory subunit beta 5296 reviewed Enzyme modulator
O60885 BXGT004906 Bromodomain-containing protein 4 23476 reviewed Epigenetic regulator
P20936 BXGT008619 Ras GTPase-activating protein 1 5921 reviewed Enzyme modulator
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P22033 BXGT008721 Methylmalonyl-CoA mutase, mitochondrial 4594 reviewed Enzyme
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P51681 BXGT010878 C-C chemokine receptor type 5 1234 reviewed G-protein coupled receptor
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9Y243 BXGT022214 RAC-gamma serine/threonine-protein kinase 10000 reviewed Kinase
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