Showing entry for ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015242
Disease NameECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
Disease CUI IdC1851841
MeSH Codes C16   C17   C05   C07  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic 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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14965 BXGT004117 Aurora kinase A 6790 reviewed Kinase
O15111 BXGT004126 Inhibitor of nuclear factor kappa-B kinase subunit alpha 1147 reviewed Kinase
O43612 BXGT004605 Orexin 3060 reviewed
O43614 BXGT004606 Orexin receptor type 2 3062 reviewed G-protein coupled receptor
O60341 BXGT004873 Lysine-specific histone demethylase 1A 23028 reviewed Epigenetic regulator
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00749 BXGT005641 Urokinase-type plasminogen activator 5328 reviewed Enzyme
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P02788 BXGT005963 Lactotransferrin 4057 reviewed Enzyme
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06401 BXGT006436 Progesterone receptor 5241 reviewed Nuclear receptor
P06703 BXGT006477 Protein S100-A6 6277 reviewed Calcium-binding protein
P06733 BXGT006490 Alpha-enolase 2023 reviewed Enzyme
P09848 BXGT006929 Lactase-phlorizin hydrolase 3938 reviewed Enzyme
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P12830 BXGT007852 Cadherin-1 999 reviewed
P15531 BXGT008136 Nucleoside diphosphate kinase A 4830 reviewed Kinase
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P22736 BXGT008800 Nuclear receptor subfamily 4 group A member 1 3164 reviewed Nuclear receptor
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P28676 BXGT009284 Grancalcin 25801 reviewed
P30041 BXGT009393 Peroxiredoxin-6 9588 reviewed Enzyme
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P31751 BXGT009576 RAC-beta serine/threonine-protein kinase 208 reviewed Kinase
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35408 BXGT009828 Prostaglandin E2 receptor EP4 subtype 5734 reviewed G-protein coupled receptor
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41161 BXGT010229 ETS translocation variant 5 2119 reviewed Transcription factor
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
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49765 BXGT010738 Vascular endothelial growth factor B 7423 reviewed Signaling
P58004 BXGT011222 Sestrin-2 83667 reviewed Enzyme
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60842 BXGT011330 Eukaryotic initiation factor 4A-I 1973 reviewed
P62508 BXGT011431 Estrogen-related receptor gamma 2104 reviewed Nuclear receptor
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q12778 BXGT013263 Forkhead box protein O1 2308 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13526 BXGT013369 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 5300 reviewed
Q15831 BXGT013604 Serine/threonine-protein kinase STK11 6794 reviewed Kinase
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q53EL6 BXGT015008 Programmed cell death protein 4 27250 reviewed Nucleic acid binding
Q7L266 BXGT016993 Isoaspartyl peptidase/L-asparaginase 80150 reviewed Enzyme
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q9P2E7 BXGT025815 Protocadherin-10 57575 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