Showing entry for Multiple congenital anomalies


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000009
Disease NameMultiple congenital anomalies
Disease CUI IdC0000772
MeSH Codes C16  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities
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
O00459 BXGT003924 Phosphatidylinositol 3-kinase regulatory subunit beta 5296 reviewed Enzyme modulator
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O00571 BXGT003938 ATP-dependent RNA helicase DDX3X 1654 reviewed
O00754 BXGT003944 Lysosomal alpha-mannosidase 4125 reviewed
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15111 BXGT004126 Inhibitor of nuclear factor kappa-B kinase subunit alpha 1147 reviewed Kinase
O15297 BXGT004149 Protein phosphatase 1D 8493 reviewed Enzyme
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O43676 BXGT004611 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 4709 reviewed
O60462 BXGT004876 Neuropilin-2 8828 reviewed
O60706 BXGT004896 ATP-binding cassette sub-family C member 9 10060 reviewed Transporter
O96017 BXGT005415 Serine/threonine-protein kinase Chk2 11200 reviewed Kinase
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P07510 BXGT006631 Acetylcholine receptor subunit gamma 1146 reviewed Ion channel
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P08686 BXGT006813 Steroid 21-hydroxylase 1589 reviewed
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P10253 BXGT007550 Lysosomal alpha-glucosidase 2548 reviewed Enzyme
P10826 BXGT007622 Retinoic acid receptor beta 5915 reviewed Nuclear receptor
P10827 BXGT007623 Thyroid hormone receptor alpha 7067 reviewed Nuclear receptor
P13637 BXGT007933 Sodium/potassium-transporting ATPase subunit alpha-3 478 reviewed Transporter
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P18075 BXGT008375 Bone morphogenetic protein 7 655 reviewed Signaling
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21695 BXGT008682 Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic 2819 reviewed Enzyme
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P23458 BXGT008868 Tyrosine-protein kinase JAK1 3716 reviewed Kinase
P24468 BXGT008969 COUP transcription factor 2 7026 reviewed Nuclear receptor
P30084 BXGT009398 Enoyl-CoA hydratase, mitochondrial 1892 reviewed Enzyme
P30279 BXGT009415 G1/S-specific cyclin-D2 894 reviewed Enzyme modulator
P32322 BXGT009624 Pyrroline-5-carboxylate reductase 1, mitochondrial 5831 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P35916 BXGT009881 Vascular endothelial growth factor receptor 3 2324 reviewed Kinase
P36021 BXGT009893 Monocarboxylate transporter 8 6567 reviewed Transporter
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41212 BXGT010235 Transcription factor ETV6 2120 reviewed Transcription factor
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P58400 BXGT011235 Neurexin-1-beta 9378 reviewed
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P61978 BXGT011399 Heterogeneous nuclear ribonucleoprotein K 3190 reviewed Enzyme
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
Q00610 BXGT012539 Clathrin heavy chain 1 1213 reviewed Transporter
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
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
Q08209 BXGT012968 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform 5530 reviewed
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q12809 BXGT013267 Potassium voltage-gated channel subfamily H member 2 3757 reviewed Ion channel
Q12830 BXGT013268 Nucleosome-remodeling factor subunit BPTF 2186 reviewed
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q13563 BXGT013377 Polycystin-2 5311 reviewed Ion channel
Q13618 BXGT013382 Cullin-3 8452 reviewed
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q14004 BXGT013435 Cyclin-dependent kinase 13 8621 reviewed Kinase
Q14524 BXGT013478 Sodium channel protein type 5 subunit alpha 6331 reviewed Ion channel
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q14839 BXGT013509 Chromodomain-helicase-DNA-binding protein 4 1108 reviewed
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q16719 BXGT013662 Kynureninase 8942 reviewed Enzyme
Q16874 BXGT013685 Cytochrome P450 21-hydroxylase 1589 unreviewed
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q5JTZ9 BXGT015458 Alanine--tRNA ligase, mitochondrial 57505 reviewed Nucleic acid binding
Q6IA69 BXGT016324 Glutamine-dependent NAD(+) synthetase 55191 reviewed
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q8IWS0 BXGT018356 PHD finger protein 6 84295 reviewed Nucleic acid binding
Q8N183 BXGT018497 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 91942 reviewed
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8WVQ1 BXGT018996 Soluble calcium-activated nucleotidase 1 124583 reviewed
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
Q969G3 BXGT019607 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 6605 reviewed
Q99527 BXGT019930 G-protein coupled estrogen receptor 1 2852 reviewed G-protein coupled receptor
Q99986 BXGT019980 Serine/threonine-protein kinase VRK1 7443 reviewed Kinase
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9H251 BXGT020449 Cadherin-23 64072 reviewed
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9HD42 BXGT020543 Charged multivesicular body protein 1a 5119 reviewed
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UPP1 BXGT021800 Histone lysine demethylase PHF8 23133 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q9Y6X9 BXGT022345 ATPase MORC2 22880 reviewed
Q53GS7 BXGT023762 Nucleoporin GLE1 2733 reviewed Transporter
P08123 BXGT024477 Collagen alpha-2(I) chain 1278 reviewed
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 reviewed Epigenetic regulator
Q7Z699 BXGT025789 Sprouty-related, EVH1 domain-containing protein 1 161742 reviewed Receptor
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