Showing entry for Craniofacial Abnormalities


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008006
Disease NameCraniofacial Abnormalities
Disease CUI IdC0376634
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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
O00238 BXGT003900 Bone morphogenetic protein receptor type-1B 658 reviewed Kinase
O14641 BXGT004078 Segment polarity protein dishevelled homolog DVL-2 1856 reviewed Signaling
O14727 BXGT004084 Apoptotic protease-activating factor 1 317 reviewed
O15409 BXGT004166 Forkhead box protein P2 93986 reviewed
O43597 BXGT004602 Protein sprouty homolog 2 10253 reviewed Signaling
O75347 BXGT005113 Tubulin-specific chaperone A 6902 reviewed Chaperone
O75844 BXGT005156 CAAX prenyl protease 1 homolog 10269 reviewed Enzyme
O94766 BXGT005330 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 26229 reviewed Enzyme
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P04083 BXGT006147 Annexin A1 301 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07099 BXGT006546 Epoxide hydrolase 1 2052 reviewed
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10828 BXGT007624 Thyroid hormone receptor beta 7068 reviewed Nuclear receptor
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P11712 BXGT007738 Cytochrome P450 2C9 1559 reviewed
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P14921 BXGT008068 Protein C-ets-1 2113 reviewed Transcription factor
P15036 BXGT008073 Protein C-ets-2 2114 reviewed Transcription factor
P15328 BXGT008108 Folate receptor alpha 2348 reviewed
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16234 BXGT008209 Platelet-derived growth factor receptor alpha 5156 reviewed Kinase
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P28472 BXGT009260 Gamma-aminobutyric acid receptor subunit beta-3 2562 reviewed Ion channel
P32754 BXGT009664 4-hydroxyphenylpyruvate dioxygenase 3242 reviewed Enzyme
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35475 BXGT009837 Alpha-L-iduronidase 3425 reviewed Enzyme
P36894 BXGT009939 Bone morphogenetic protein receptor type-1A 657 reviewed Kinase
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P38919 BXGT010072 Eukaryotic initiation factor 4A-III 9775 reviewed
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P48729 BXGT010655 Casein kinase I isoform alpha 1452 reviewed Kinase
P48735 BXGT010657 Isocitrate dehydrogenase [NADP], mitochondrial 3418 reviewed
P48740 BXGT010659 Mannan-binding lectin serine protease 1 5648 reviewed Enzyme
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
P61586 BXGT011375 Transforming protein RhoA 387 reviewed Enzyme modulator
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
P78504 BXGT011844 Protein jagged-1 182 reviewed
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
P98164 BXGT012230 Low-density lipoprotein receptor-related protein 2 4036 reviewed
Q01581 BXGT012599 Hydroxymethylglutaryl-CoA synthase, cytoplasmic 3157 reviewed
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12959 BXGT013283 Disks large homolog 1 1739 reviewed Receptor
Q13219 BXGT013327 Pappalysin-1 5069 reviewed
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13563 BXGT013377 Polycystin-2 5311 reviewed Ion channel
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q8NBZ7 BXGT018544 UDP-glucuronic acid decarboxylase 1 80146 reviewed Enzyme
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
Q9BWP8 BXGT020153 Collectin-11 78989 reviewed Surfactant
Q9H6P5 BXGT020483 Threonine aspartase 1 55617 reviewed Enzyme
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UBV7 BXGT021665 Beta-1,4-galactosyltransferase 7 11285 reviewed
Q9UHB9 BXGT021694 Signal recognition particle subunit SRP68 6730 reviewed Nucleic acid binding
Q9UKV8 BXGT021752 Protein argonaute-2 27161 reviewed
Q9ULV1 BXGT021764 Frizzled-4 8322 reviewed G-protein coupled receptor
Q9Y219 BXGT022206 Protein jagged-2 3714 reviewed
Q9Y4U1 BXGT022285 Methylmalonic aciduria and homocystinuria type C protein 25974 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
Q96C86 BXGT022803 m7GpppX diphosphatase 28960 reviewed Enzyme
Q01543 BXGT023137 Friend leukemia integration 1 transcription factor 2313 reviewed Transcription factor
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q99958 BXGT023732 Forkhead box protein C2 2303 reviewed Transcription factor
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q96DA2 BXGT025522 Ras-related protein Rab-39B 116442 reviewed
Q05086 BXGT025648 Ubiquitin-protein ligase E3A 7337 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