Showing entry for Congenital Hyperinsulinism


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD019942
Disease NameCongenital Hyperinsulinism
Disease CUI IdC3888018
MeSH Codes C16   C06   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic disease
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
O00255 BXGT003903 Menin 4221 reviewed
O00330 BXGT003910 Pyruvate dehydrogenase protein X component, mitochondrial 8050 reviewed Enzyme
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
P00367 BXGT005517 Glutamate dehydrogenase 1, mitochondrial 2746 reviewed Enzyme
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01275 BXGT005747 Glucagon 2641 reviewed
P01308 BXGT005749 Insulin 3630 reviewed
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P20711 BXGT008594 Aromatic-L-amino-acid decarboxylase 1644 reviewed
P23946 BXGT008932 Chymase 1215 reviewed Enzyme
P27487 BXGT009187 Dipeptidyl peptidase 4 1803 reviewed Enzyme
P34949 BXGT009775 Mannose-6-phosphate isomerase 4351 reviewed Enzyme
P35557 BXGT009846 Glucokinase 2645 reviewed Kinase
P36871 BXGT009936 Phosphoglucomutase-1 5236 reviewed
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P41235 BXGT010241 Hepatocyte nuclear factor 4-alpha 3172 reviewed Nuclear receptor
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P43220 BXGT010367 Glucagon-like peptide 1 receptor 2740 reviewed G-protein coupled receptor
P46527 BXGT010525 Cyclin-dependent kinase inhibitor 1B 1027 reviewed
P46940 BXGT010556 Ras GTPase-activating-like protein IQGAP1 8826 reviewed Enzyme modulator
P51451 BXGT010848 Tyrosine-protein kinase Blk 640 reviewed Kinase
P53985 BXGT011022 Monocarboxylate transporter 1 6566 reviewed Transporter
Q09428 BXGT013036 ATP-binding cassette sub-family C member 8 6833 reviewed Transporter
Q14654 BXGT013495 ATP-sensitive inward rectifier potassium channel 11 3767 reviewed Ion channel
Q16836 BXGT013679 Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial 3033 reviewed
Q8IVH8 BXGT018345 Mitogen-activated protein kinase kinase kinase kinase 3 8491 reviewed Kinase
Q8IVS2 BXGT018349 Malonyl-CoA-acyl carrier protein transacylase, mitochondrial 27349 reviewed
Q99714 BXGT019954 3-hydroxyacyl-CoA dehydrogenase type-2 3028 reviewed Enzyme
Q9UJM8 BXGT021726 Hydroxyacid oxidase 1 54363 reviewed
Q9ULC4 BXGT021757 Malignant T-cell-amplified sequence 1 28985 reviewed Receptor
Q9UKG1 BXGT022975 DCC-interacting protein 13-alpha 26060 reviewed
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 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