Showing entry for Classical phenylketonuria



                               
General Disease Information
BXGD IdBXGD010439
Disease NameClassical phenylketonuria
Disease CUI IdC0751434
MeSH Codes C16   C18   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0001939  
Human Phenotype Ontology TermAbnormality of metabolism/homeostasis
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
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O76082 BXGT005175 Solute carrier family 22 member 5 6584 reviewed Transporter
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00966 BXGT005707 Argininosuccinate synthase 445 reviewed Enzyme
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02766 BXGT005953 Transthyretin 7276 reviewed Transporter
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P09417 BXGT006888 Dihydropteridine reductase 5860 reviewed Enzyme
P15559 BXGT008139 NAD(P)H dehydrogenase [quinone] 1 1728 reviewed
P19021 BXGT008449 Peptidyl-glycine alpha-amidating monooxygenase 5066 reviewed Enzyme
P22352 BXGT008758 Glutathione peroxidase 3 2878 reviewed Enzyme
P27338 BXGT009172 Amine oxidase [flavin-containing] B 4129 reviewed
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P35270 BXGT009807 Sepiapterin reductase 6697 reviewed
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P55809 BXGT011127 Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial 5019 reviewed Enzyme
P68871 BXGT011615 Hemoglobin subunit beta 3043 reviewed
Q01650 BXGT012603 Large neutral amino acids transporter small subunit 1 8140 reviewed Transporter
Q03393 BXGT012711 6-pyruvoyl tetrahydrobiopterin synthase 5805 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q5T6L4 BXGT015848 Argininosuccinate synthase 1 isoform 1 445 unreviewed
Q9Y4U1 BXGT022285 Methylmalonic aciduria and homocystinuria type C protein 25974 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