Showing entry for Inborn Errors of Metabolism


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001876
Disease NameInborn Errors of Metabolism
Disease CUI IdC0025521
MeSH Codes C16   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome; Congenital Abnormality
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
O00337 BXGT003911 Sodium/nucleoside cotransporter 1 9154 reviewed Transporter
O15118 BXGT004127 NPC intracellular cholesterol transporter 1 4864 reviewed Transporter
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O43464 BXGT004595 Serine protease HTRA2, mitochondrial 27429 reviewed
O43772 BXGT004623 Mitochondrial carnitine/acylcarnitine carrier protein 788 reviewed Transporter
O43826 BXGT004629 Glucose-6-phosphate exchanger SLC37A4 2542 reviewed Transporter
O94925 BXGT005342 Glutaminase kidney isoform, mitochondrial 2744 reviewed Enzyme
O95271 BXGT005369 Poly [ADP-ribose] polymerase tankyrase-1 8658 reviewed
O95470 BXGT005382 Sphingosine-1-phosphate lyase 1 8879 reviewed
O96007 BXGT005413 Molybdopterin synthase catalytic subunit 4338 reviewed
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00480 BXGT005551 Ornithine carbamoyltransferase, mitochondrial 5009 reviewed
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P00918 BXGT005690 Carbonic anhydrase 2 760 reviewed
P00966 BXGT005707 Argininosuccinate synthase 445 reviewed Enzyme
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01236 BXGT005744 Prolactin 5617 reviewed Signaling
P04180 BXGT006164 Phosphatidylcholine-sterol acyltransferase 3931 reviewed Enzyme
P04181 BXGT006165 Ornithine aminotransferase, mitochondrial 4942 reviewed Enzyme
P05089 BXGT006310 Arginase-1 383 reviewed Enzyme
P05186 BXGT006338 Alkaline phosphatase, tissue-nonspecific isozyme 249 reviewed Enzyme
P05543 BXGT006366 Thyroxine-binding globulin 6906 reviewed Enzyme modulator
P06280 BXGT006433 Alpha-galactosidase A 2717 reviewed
P06865 BXGT006516 Beta-hexosaminidase subunit alpha 3073 reviewed Enzyme
P07195 BXGT006563 L-lactate dehydrogenase B chain 3945 reviewed Enzyme
P07686 BXGT006657 Beta-hexosaminidase subunit beta 3074 reviewed Enzyme
P07902 BXGT006697 Galactose-1-phosphate uridylyltransferase 2592 reviewed Enzyme
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P08397 BXGT006768 Porphobilinogen deaminase 3145 reviewed Enzyme
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P08842 BXGT006830 Steryl-sulfatase 412 reviewed Enzyme
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P11586 BXGT007723 C-1-tetrahydrofolate synthase, cytoplasmic 4522 reviewed Enzyme
P15941 BXGT008176 Mucin-1 4582 reviewed
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P16930 BXGT008272 Fumarylacetoacetase 2184 reviewed
P17405 BXGT008304 Sphingomyelin phosphodiesterase 6609 reviewed Enzyme
P17735 BXGT008335 Tyrosine aminotransferase 6898 reviewed
P19971 BXGT008537 Thymidine phosphorylase 1890 reviewed Enzyme
P20062 BXGT008543 Transcobalamin-2 6948 reviewed
P21549 BXGT008661 Serine--pyruvate aminotransferase 189 reviewed Enzyme
P21695 BXGT008682 Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic 2819 reviewed Enzyme
P22033 BXGT008721 Methylmalonyl-CoA mutase, mitochondrial 4594 reviewed Enzyme
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P23141 BXGT008830 Liver carboxylesterase 1 1066 reviewed Enzyme
P24752 BXGT008993 Acetyl-CoA acetyltransferase, mitochondrial 38 reviewed Enzyme
P29401 BXGT009344 Transketolase 7086 reviewed Enzyme
P30084 BXGT009398 Enoyl-CoA hydratase, mitochondrial 1892 reviewed Enzyme
P30566 BXGT009446 Adenylosuccinate lyase 158 reviewed Enzyme
P33981 BXGT009744 Dual specificity protein kinase TTK 7272 reviewed Kinase
P35475 BXGT009837 Alpha-L-iduronidase 3425 reviewed Enzyme
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P45381 BXGT010460 Aspartoacylase 443 reviewed
P47712 BXGT010577 Cytosolic phospholipase A2 5321 reviewed Enzyme
P48357 BXGT010627 Leptin receptor 3953 reviewed Signaling
P51570 BXGT010858 Galactokinase 2584 reviewed Kinase
P51687 BXGT010882 Sulfite oxidase, mitochondrial 6821 reviewed
P60174 BXGT011294 Triosephosphate isomerase 7167 reviewed Enzyme
Q03154 BXGT012698 Aminoacylase-1 95 reviewed
Q12882 BXGT013276 Dihydropyrimidine dehydrogenase [NADP(+)] 1806 reviewed Enzyme
Q13093 BXGT013310 Platelet-activating factor acetylhydrolase 7941 reviewed Enzyme
Q13427 BXGT013354 Peptidyl-prolyl cis-trans isomerase G 9360 reviewed
Q14376 BXGT013464 UDP-glucose 4-epimerase 2582 reviewed
Q14749 BXGT013503 Glycine N-methyltransferase 27232 reviewed
Q14973 BXGT013515 Sodium/bile acid cotransporter 6554 reviewed Transporter
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q2M385 BXGT014131 Macrophage-expressed gene 1 protein 219972 reviewed
Q5T6L4 BXGT015848 Argininosuccinate synthase 1 isoform 1 445 unreviewed
Q6NVY1 BXGT016432 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial 26275 reviewed Enzyme
Q8N159 BXGT018496 N-acetylglutamate synthase, mitochondrial 162417 reviewed
Q8NBK3 BXGT018538 Formylglycine-generating enzyme 285362 reviewed
Q99714 BXGT019954 3-hydroxyacyl-CoA dehydrogenase type-2 3028 reviewed Enzyme
Q9BY32 BXGT020179 Inosine triphosphate pyrophosphatase 3704 reviewed Enzyme
Q9BYV1 BXGT020191 Alanine--glyoxylate aminotransferase 2, mitochondrial 64902 reviewed
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
Q9GZV3 BXGT020427 High affinity choline transporter 1 60482 reviewed Transporter
Q9UJM8 BXGT021726 Hydroxyacid oxidase 1 54363 reviewed
Q9UJS0 BXGT021727 Calcium-binding mitochondrial carrier protein Aralar2 10165 reviewed Transporter
Q9ULV0 BXGT021763 Unconventional myosin-Vb 4645 reviewed Cellular structure
Q9Y234 BXGT022211 Lipoyltransferase 1, mitochondrial 51601 reviewed Enzyme
Q9Y259 BXGT022219 Choline/ethanolamine kinase 1120 reviewed Kinase
P35670 BXGT023695 Copper-transporting ATPase 2 540 reviewed Transporter
O75208 BXGT023882 Ubiquinone biosynthesis protein COQ9, mitochondrial 57017 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