Showing entry for Congenital defects


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD004346
Disease NameCongenital defects
Disease CUI IdC0220810
MeSH Codes   
Disease Class Name
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id   
Disease Ontology Class Name
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
O60494 BXGT004879 Cubilin 8029 reviewed
O95631 BXGT005387 Netrin-1 9423 reviewed Enzyme modulator
P00325 BXGT005498 Alcohol dehydrogenase 1B 125 reviewed Enzyme
P00326 BXGT005499 Alcohol dehydrogenase 1C 126 reviewed Enzyme
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P01236 BXGT005744 Prolactin 5617 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04070 BXGT006143 Vitamin K-dependent protein C 5624 reviewed Enzyme
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05091 BXGT006312 Aldehyde dehydrogenase, mitochondrial 217 reviewed Enzyme
P05177 BXGT006336 Cytochrome P450 1A2 1544 reviewed Enzyme
P06703 BXGT006477 Protein S100-A6 6277 reviewed Calcium-binding protein
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P09429 BXGT006889 High mobility group protein B1 3146 reviewed Nucleic acid binding
P09488 BXGT006899 Glutathione S-transferase Mu 1 2944 reviewed
P0DMV8 BXGT007509 Heat shock 70 kDa protein 1A 3304 reviewed
P0DMV9 BXGT007510 Heat shock 70 kDa protein 1B 3304 reviewed
P11586 BXGT007723 C-1-tetrahydrofolate synthase, cytoplasmic 4522 reviewed Enzyme
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P15328 BXGT008108 Folate receptor alpha 2348 reviewed
P18075 BXGT008375 Bone morphogenetic protein 7 655 reviewed Signaling
P18440 BXGT008404 Arylamine N-acetyltransferase 1 9 reviewed Enzyme
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P20062 BXGT008543 Transcobalamin-2 6948 reviewed
P21554 BXGT008662 Cannabinoid receptor 1 1268 reviewed G-protein coupled receptor
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P27169 BXGT009161 Serum paraoxonase/arylesterase 1 5444 reviewed
P28329 BXGT009251 Choline O-acetyltransferase 1103 reviewed Enzyme
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P30530 BXGT009431 Tyrosine-protein kinase receptor UFO 558 reviewed Kinase
P30711 BXGT009460 Glutathione S-transferase theta-1 2952 reviewed
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P34896 BXGT009767 Serine hydroxymethyltransferase, cytosolic 6470 reviewed Enzyme
P35228 BXGT009800 Nitric oxide synthase, inducible 4843 reviewed
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P40225 BXGT010168 Thrombopoietin 7066 reviewed
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P50281 BXGT010788 Matrix metalloproteinase-14 4323 reviewed Enzyme
P52209 BXGT010923 6-phosphogluconate dehydrogenase, decarboxylating 5226 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P68871 BXGT011615 Hemoglobin subunit beta 3043 reviewed
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q02083 BXGT012633 N-acylethanolamine-hydrolyzing acid amidase 27163 reviewed Enzyme
Q13219 BXGT013327 Pappalysin-1 5069 reviewed
Q15149 BXGT013547 Plectin 5339 reviewed Cellular structure
Q8NER1 BXGT018556 Transient receptor potential cation channel subfamily V member 1 7442 reviewed Ion channel
Q92959 BXGT019400 Solute carrier organic anion transporter family member 2A1 6578 reviewed Transporter
Q96GD0 BXGT019665 Pyridoxal phosphate phosphatase 57026 reviewed Enzyme
Q96SW2 BXGT019743 Protein cereblon 51185 reviewed Enzyme
Q99593 BXGT019939 T-box transcription factor TBX5 6910 reviewed Transcription factor
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9UI32 BXGT021711 Glutaminase liver isoform, mitochondrial 27165 reviewed Enzyme
Q9UKA9 BXGT021740 Polypyrimidine tract-binding protein 2 58155 reviewed
Q9UPZ9 BXGT021804 Serine/threonine-protein kinase ICK 22858 reviewed Kinase
A6NHR9 BXGT024875 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 23347 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
O00409 BXGT024934 Forkhead box protein N3 1112 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