Showing entry for Renal carnitine transport defect


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD007552
Disease NameRenal carnitine transport defect
Disease CUI IdC0342788
MeSH Codes C23   C05   C10   C14  
Disease Class NamePathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular 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
O00142 BXGT003883 Thymidine kinase 2, mitochondrial 7084 reviewed Kinase
O00519 BXGT003934 Fatty-acid amide hydrolase 1 2166 reviewed
O00767 BXGT003949 Acyl-CoA desaturase 6319 reviewed
O76082 BXGT005175 Solute carrier family 22 member 5 6584 reviewed Transporter
O95405 BXGT005379 Zinc finger FYVE domain-containing protein 9 9372 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P04035 BXGT006129 3-hydroxy-3-methylglutaryl-coenzyme A reductase 3156 reviewed
P05089 BXGT006310 Arginase-1 383 reviewed Enzyme
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P08174 BXGT006739 Complement decay-accelerating factor 1604 reviewed
P09172 BXGT006865 Dopamine beta-hydroxylase 1621 reviewed
P11226 BXGT007675 Mannose-binding protein C 4153 reviewed Receptor
P21554 BXGT008662 Cannabinoid receptor 1 1268 reviewed G-protein coupled receptor
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P23786 BXGT008906 Carnitine O-palmitoyltransferase 2, mitochondrial 1376 reviewed Enzyme
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P29218 BXGT009322 Inositol monophosphatase 1 3612 reviewed Enzyme
P35247 BXGT009804 Pulmonary surfactant-associated protein D 6441 reviewed Surfactant
P38117 BXGT010027 Electron transfer flavoprotein subunit beta 2109 reviewed Enzyme
P50416 BXGT010797 Carnitine O-palmitoyltransferase 1, liver isoform 1374 reviewed Enzyme
P68871 BXGT011615 Hemoglobin subunit beta 3043 reviewed
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q13936 BXGT013404 Voltage-dependent L-type calcium channel subunit alpha-1C 775 reviewed Ion channel
Q16654 BXGT013650 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial 5166 reviewed Kinase
Q8WTS1 BXGT018985 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 51099 reviewed
Q9H015 BXGT020432 Solute carrier family 22 member 4 6583 reviewed Transporter
Q9H251 BXGT020449 Cadherin-23 64072 reviewed
Q9NVH6 BXGT021224 Trimethyllysine dioxygenase, mitochondrial 55217 reviewed
Q9Y4D2 BXGT022274 Sn1-specific diacylglycerol lipase alpha 747 reviewed
Q16134 BXGT022664 Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial 2110 reviewed Enzyme
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