Showing entry for Congenital anomaly of face


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005700
Disease NameCongenital anomaly of face
Disease CUI IdC0266617
MeSH Codes C16   C13   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000152  
Human Phenotype Ontology TermAbnormality of head or neck
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
O00151 BXGT003885 PDZ and LIM domain protein 1 9124 reviewed Cellular structure
O00512 BXGT003933 B-cell CLL/lymphoma 9 protein 607 reviewed
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O75909 BXGT005163 Cyclin-K 8812 reviewed Enzyme modulator
O95985 BXGT005410 DNA topoisomerase 3-beta-1 8940 reviewed Enzyme
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P10636 BXGT007596 Microtubule-associated protein tau 4137 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P21333 BXGT008638 Filamin-A 2316 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P35658 BXGT009859 Nuclear pore complex protein Nup214 8021 reviewed Nucleic acid binding
P36894 BXGT009939 Bone morphogenetic protein receptor type-1A 657 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P56524 BXGT011176 Histone deacetylase 4 9759 reviewed Epigenetic regulator
P60880 BXGT011335 Synaptosomal-associated protein 25 6616 reviewed Transporter
P78504 BXGT011844 Protein jagged-1 182 reviewed
Q01968 BXGT012626 Inositol polyphosphate 5-phosphatase OCRL-1 4952 reviewed Enzyme
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q13426 BXGT013353 DNA repair protein XRCC4 7518 reviewed
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q14332 BXGT013462 Frizzled-2 2535 reviewed G-protein coupled receptor
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q15751 BXGT013593 Probable E3 ubiquitin-protein ligase HERC1 8925 reviewed Enzyme modulator
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q8WWQ0 BXGT019003 PH-interacting protein 55023 reviewed Epigenetic regulator
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q9H4W6 BXGT020478 Transcription factor COE3 253738 reviewed
Q9NYG8 BXGT021257 Potassium channel subfamily K member 4 50801 reviewed Ion channel
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9Y6A5 BXGT022325 Transforming acidic coiled-coil-containing protein 3 10460 reviewed
Q9UQE7 BXGT025899 Structural maintenance of chromosomes protein 3 9126 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