Showing entry for Congenital Heart Defects


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001223
Disease NameCongenital Heart Defects
Disease CUI IdC0018798
MeSH Codes C16   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0001626  
Human Phenotype Ontology TermAbnormality of the cardiovascular system
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease of anatomical entity
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
O00151 BXGT003885 PDZ and LIM domain protein 1 9124 reviewed Cellular structure
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O00408 BXGT003916 cGMP-dependent 3',5'-cyclic phosphodiesterase 5138 reviewed
O14578 BXGT004072 Citron Rho-interacting kinase 11113 reviewed Kinase
O14717 BXGT004083 tRNA (cytosine(38)-C(5))-methyltransferase 1787 reviewed
O14770 BXGT004095 Homeobox protein Meis2 4212 reviewed Enzyme
O14788 BXGT004100 Tumor necrosis factor ligand superfamily member 11 8600 reviewed Signaling
O15119 BXGT004128 T-box transcription factor TBX3 6926 reviewed Transcription factor
O43318 BXGT004586 Mitogen-activated protein kinase kinase kinase 7 6885 reviewed Kinase
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
O60760 BXGT004899 Hematopoietic prostaglandin D synthase 27306 reviewed
O60885 BXGT004906 Bromodomain-containing protein 4 23476 reviewed Epigenetic regulator
O75628 BXGT005140 GTP-binding protein REM 1 28954 reviewed
O75923 BXGT005166 Dysferlin 8291 reviewed Transporter
O94766 BXGT005330 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 26229 reviewed Enzyme
O95644 BXGT005389 Nuclear factor of activated T-cells, cytoplasmic 1 4772 reviewed Transcription factor
O95750 BXGT005395 Fibroblast growth factor 19 9965 reviewed Signaling
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P01034 BXGT005721 Cystatin-C 1471 reviewed
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01308 BXGT005749 Insulin 3630 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02647 BXGT005908 Apolipoprotein A-I 335 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P05091 BXGT006312 Aldehyde dehydrogenase, mitochondrial 217 reviewed Enzyme
P05413 BXGT006355 Fatty acid-binding protein, heart 2170 reviewed
P06730 BXGT006487 Eukaryotic translation initiation factor 4E 1977 reviewed Nucleic acid binding
P06733 BXGT006490 Alpha-enolase 2023 reviewed Enzyme
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08697 BXGT006815 Alpha-2-antiplasmin 5345 reviewed Enzyme modulator
P09211 BXGT006869 Glutathione S-transferase P 2950 reviewed
P09493 BXGT006900 Tropomyosin alpha-1 chain 7168 reviewed Cellular structure
P09651 BXGT006913 Heterogeneous nuclear ribonucleoprotein A1 3178 reviewed
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
P10620 BXGT007590 Microsomal glutathione S-transferase 1 4257 reviewed
P11169 BXGT007664 Solute carrier family 2, facilitated glucose transporter member 3 6515 reviewed Transporter
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P11586 BXGT007723 C-1-tetrahydrofolate synthase, cytoplasmic 4522 reviewed Enzyme
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P13726 BXGT007950 Tissue factor 2152 reviewed Receptor
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15085 BXGT008077 Carboxypeptidase A1 1357 reviewed Enzyme
P15086 BXGT008078 Carboxypeptidase B 1360 reviewed Enzyme
P15328 BXGT008108 Folate receptor alpha 2348 reviewed
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15924 BXGT008171 Desmoplakin 1832 reviewed Cellular structure
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P16473 BXGT008234 Thyrotropin receptor 7253 reviewed G-protein coupled receptor
P18031 BXGT008369 Tyrosine-protein phosphatase non-receptor type 1 5770 reviewed
P19793 BXGT008515 Retinoic acid receptor RXR-alpha 6256 reviewed Nuclear receptor
P20309 BXGT008562 Muscarinic acetylcholine receptor M3 1131 reviewed G-protein coupled receptor
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P24468 BXGT008969 COUP transcription factor 2 7026 reviewed Nuclear receptor
P25098 BXGT009015 Beta-adrenergic receptor kinase 1 156 reviewed Kinase
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P30533 BXGT009434 Alpha-2-macroglobulin receptor-associated protein 4043 reviewed
P31327 BXGT009523 Carbamoyl-phosphate synthase [ammonia], mitochondrial 1373 reviewed Enzyme
P31645 BXGT009558 Sodium-dependent serotonin transporter 6532 reviewed Transporter
P34896 BXGT009767 Serine hydroxymethyltransferase, cytosolic 6470 reviewed Enzyme
P34947 BXGT009774 G protein-coupled receptor kinase 5 2869 reviewed Kinase
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35414 BXGT009829 Apelin receptor 187 reviewed G-protein coupled receptor
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P35557 BXGT009846 Glucokinase 2645 reviewed Kinase
P35869 BXGT009877 Aryl hydrocarbon receptor 196 reviewed Transcription factor
P35916 BXGT009881 Vascular endothelial growth factor receptor 3 2324 reviewed Kinase
P36894 BXGT009939 Bone morphogenetic protein receptor type-1A 657 reviewed Kinase
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P39748 BXGT010134 Flap endonuclease 1 2237 reviewed Enzyme
P40261 BXGT010170 Nicotinamide N-methyltransferase 4837 reviewed Enzyme
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P48023 BXGT010604 Tumor necrosis factor ligand superfamily member 6 356 reviewed Signaling
P48051 BXGT010611 G protein-activated inward rectifier potassium channel 2 3763 reviewed Ion channel
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49914 BXGT010762 5-formyltetrahydrofolate cyclo-ligase 10588 reviewed Enzyme
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P51114 BXGT010832 Fragile X mental retardation syndrome-related protein 1 8087 reviewed Nucleic acid binding
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51684 BXGT010880 C-C chemokine receptor type 6 1235 reviewed G-protein coupled receptor
P51946 BXGT010907 Cyclin-H 902 reviewed Enzyme modulator
P52952 BXGT010966 Homeobox protein Nkx-2.5 1482 reviewed Transcription factor
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P62736 BXGT011452 Actin, aortic smooth muscle 59 reviewed Cellular structure
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
P78504 BXGT011844 Protein jagged-1 182 reviewed
P98164 BXGT012230 Low-density lipoprotein receptor-related protein 2 4036 reviewed
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q02763 BXGT012667 Angiopoietin-1 receptor 7010 reviewed Kinase
Q04771 BXGT012783 Activin receptor type-1 90 reviewed Kinase
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q09428 BXGT013036 ATP-binding cassette sub-family C member 8 6833 reviewed Transporter
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q13219 BXGT013327 Pappalysin-1 5069 reviewed
Q13464 BXGT013357 Rho-associated protein kinase 1 6093 reviewed Kinase
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13563 BXGT013377 Polycystin-2 5311 reviewed Ion channel
Q13936 BXGT013404 Voltage-dependent L-type calcium channel subunit alpha-1C 775 reviewed Ion channel
Q13951 BXGT013407 Core-binding factor subunit beta 865 reviewed
Q14004 BXGT013435 Cyclin-dependent kinase 13 8621 reviewed Kinase
Q14524 BXGT013478 Sodium channel protein type 5 subunit alpha 6331 reviewed Ion channel
Q14654 BXGT013495 ATP-sensitive inward rectifier potassium channel 11 3767 reviewed Ion channel
Q14749 BXGT013503 Glycine N-methyltransferase 27232 reviewed
Q14982 BXGT013518 Opioid-binding protein/cell adhesion molecule 4978 reviewed
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q15233 BXGT013552 Non-POU domain-containing octamer-binding protein 4841 reviewed Nucleic acid binding
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q16288 BXGT013625 NT-3 growth factor receptor 4916 reviewed Kinase
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q32MK0 BXGT014323 Myosin light chain kinase 3 91807 reviewed Kinase
Q6NUK1 BXGT016429 Calcium-binding mitochondrial carrier protein SCaMC-1 29957 reviewed Transporter
Q76LX8 BXGT016870 A disintegrin and metalloproteinase with thrombospondin motifs 13 11093 reviewed Enzyme
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q86U86 BXGT017611 Protein polybromo-1 55193 reviewed Epigenetic regulator
Q8NER1 BXGT018556 Transient receptor potential cation channel subfamily V member 1 7442 reviewed Ion channel
Q92736 BXGT019367 Ryanodine receptor 2 6262 reviewed Ion channel
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
Q93088 BXGT019458 Betaine--homocysteine S-methyltransferase 1 635 reviewed
Q969G3 BXGT019607 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 6605 reviewed
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q99593 BXGT019939 T-box transcription factor TBX5 6910 reviewed Transcription factor
Q99707 BXGT019952 Methionine synthase 4548 reviewed
Q9BXJ9 BXGT020170 N-alpha-acetyltransferase 15, NatA auxiliary subunit 80155 reviewed Enzyme
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UBK8 BXGT021655 Methionine synthase reductase 4552 reviewed
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UPY3 BXGT021802 Endoribonuclease Dicer 23405 reviewed Enzyme
Q9Y3Q4 BXGT022264 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 10021 reviewed Ion channel
Q9Y4D1 BXGT022273 Disheveled-associated activator of morphogenesis 1 23002 reviewed
Q9Y4K0 BXGT022280 Lysyl oxidase homolog 2 4017 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
P16615 BXGT023653 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 488 reviewed Transporter
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
Q9H0W8 BXGT024746 Protein SMG9 56006 reviewed
Q9P121 BXGT025711 Neurotrimin 50863 reviewed
P35251 BXGT025853 Replication factor C subunit 1 5981 reviewed
Q86SG6 BXGT026136 Serine/threonine-protein kinase Nek8 284086 reviewed Kinase
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