Showing entry for Phenylketonurias



                               
General Disease Information
BXGD IdBXGD002303
Disease NamePhenylketonurias
Disease CUI IdC0031485
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   
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
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
P00480 BXGT005551 Ornithine carbamoyltransferase, mitochondrial 5009 reviewed
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P00966 BXGT005707 Argininosuccinate synthase 445 reviewed Enzyme
P01215 BXGT005743 Glycoprotein hormones alpha chain 1081 reviewed
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
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
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08195 BXGT006745 4F2 cell-surface antigen heavy chain 6520 reviewed Transporter
P09417 BXGT006888 Dihydropteridine reductase 5860 reviewed Enzyme
P09466 BXGT006892 Glycodelin 5047 reviewed Enzyme
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P14598 BXGT008024 Neutrophil cytosol factor 1 653361 reviewed
P15531 BXGT008136 Nucleoside diphosphate kinase A 4830 reviewed Kinase
P15559 BXGT008139 NAD(P)H dehydrogenase [quinone] 1 1728 reviewed
P19021 BXGT008449 Peptidyl-glycine alpha-amidating monooxygenase 5066 reviewed Enzyme
P20132 BXGT008546 L-serine dehydratase/L-threonine deaminase 10993 reviewed Enzyme
P27338 BXGT009172 Amine oxidase [flavin-containing] B 4129 reviewed
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P35270 BXGT009807 Sepiapterin reductase 6697 reviewed
P36871 BXGT009936 Phosphoglucomutase-1 5236 reviewed
P40967 BXGT010212 Melanocyte protein PMEL 6490 reviewed Signaling
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
Q00653 BXGT012541 Nuclear factor NF-kappa-B p100 subunit 4791 reviewed Transcription factor
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
Q15020 BXGT013522 Squamous cell carcinoma antigen recognized by T-cells 3 9733 reviewed Nucleic acid binding
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q5T6L4 BXGT015848 Argininosuccinate synthase 1 isoform 1 445 unreviewed
Q7KZF4 BXGT016989 Staphylococcal nuclease domain-containing protein 1 27044 reviewed Transcription factor
Q8N159 BXGT018496 N-acetylglutamate synthase, mitochondrial 162417 reviewed
Q99784 BXGT019961 Noelin 10439 reviewed Cellular structure
Q9ULW0 BXGT021766 Targeting protein for Xklp2 22974 reviewed Cellular structure
Q9Y4U1 BXGT022285 Methylmalonic aciduria and homocystinuria type C protein 25974 reviewed
Q695T7 BXGT024794 Sodium-dependent neutral amino acid transporter B(0)AT1 340024 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