Showing entry for Congenital Epicanthus


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD009750
Disease NameCongenital Epicanthus
Disease CUI IdC0678230
MeSH Codes   
Disease Class Name
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
A5YKK6 BXGT001378 CCR4-NOT transcription complex subunit 1 23019 reviewed Transcription factor
O00330 BXGT003910 Pyruvate dehydrogenase protein X component, mitochondrial 8050 reviewed Enzyme
O00443 BXGT003920 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 5286 reviewed Kinase
O00754 BXGT003944 Lysosomal alpha-mannosidase 4125 reviewed
O00755 BXGT003945 Protein Wnt-7a 7476 reviewed Signaling
O14764 BXGT004094 Gamma-aminobutyric acid receptor subunit delta 2563 reviewed Ion channel
O14773 BXGT004096 Tripeptidyl-peptidase 1 1200 reviewed Enzyme
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15054 BXGT004121 Lysine-specific demethylase 6B 23135 reviewed Epigenetic regulator
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O43683 BXGT004614 Mitotic checkpoint serine/threonine-protein kinase BUB1 699 reviewed Kinase
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O60706 BXGT004896 ATP-binding cassette sub-family C member 9 10060 reviewed Transporter
O75530 BXGT005135 Polycomb protein EED 8726 reviewed
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02708 BXGT005927 Acetylcholine receptor subunit alpha 1134 reviewed Ion channel
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04075 BXGT006145 Fructose-bisphosphate aldolase A 226 reviewed
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P07510 BXGT006631 Acetylcholine receptor subunit gamma 1146 reviewed Ion channel
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P10644 BXGT007597 cAMP-dependent protein kinase type I-alpha regulatory subunit 5573 reviewed
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P11912 BXGT007758 B-cell antigen receptor complex-associated protein alpha chain 973 reviewed Receptor
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P13637 BXGT007933 Sodium/potassium-transporting ATPase subunit alpha-3 478 reviewed Transporter
P14678 BXGT008038 Small nuclear ribonucleoprotein-associated proteins B and B' 6628 reviewed Nucleic acid binding
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15814 BXGT008159 Immunoglobulin lambda-like polypeptide 1 3543 reviewed
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16157 BXGT008203 Ankyrin-1 286 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21579 BXGT008665 Synaptotagmin-1 6857 reviewed Transporter
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P22681 BXGT008795 E3 ubiquitin-protein ligase CBL 867 reviewed Enzyme
P27635 BXGT009194 60S ribosomal protein L10 6134 reviewed Nucleic acid binding
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P35499 BXGT009839 Sodium channel protein type 4 subunit alpha 6329 reviewed Ion channel
P35916 BXGT009881 Vascular endothelial growth factor receptor 3 2324 reviewed Kinase
P36507 BXGT009923 Dual specificity mitogen-activated protein kinase kinase 2 5605 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P39060 BXGT010088 Collagen alpha-1(XVIII) chain 80781 reviewed
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
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
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P49767 BXGT010739 Vascular endothelial growth factor C 7424 reviewed Signaling
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51787 BXGT010889 Potassium voltage-gated channel subfamily KQT member 1 3784 reviewed Ion channel
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P52732 BXGT010948 Kinesin-like protein KIF11 3832 reviewed Cellular structure
P53667 BXGT011008 LIM domain kinase 1 3984 reviewed Kinase
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P62258 BXGT011415 14-3-3 protein epsilon 7531 reviewed Chaperone
P62266 BXGT011416 40S ribosomal protein S23 6228 reviewed Nucleic acid binding
P62857 BXGT011466 40S ribosomal protein S28 6234 reviewed Nucleic acid binding
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
P67775 BXGT011563 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform 5515 reviewed
P68400 BXGT011599 Casein kinase II subunit alpha 1457 reviewed Kinase
P69905 BXGT011649 Hemoglobin subunit alpha 3040 reviewed
Q01974 BXGT012628 Tyrosine-protein kinase transmembrane receptor ROR2 4920 reviewed Kinase
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q02809 BXGT012674 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 5351 reviewed Enzyme
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q07001 BXGT012907 Acetylcholine receptor subunit delta 1144 reviewed Ion channel
Q07837 BXGT012943 Neutral and basic amino acid transport protein rBAT 6519 reviewed Transporter
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q08499 BXGT012988 cAMP-specific 3',5'-cyclic phosphodiesterase 4D 5144 reviewed
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q12791 BXGT013264 Calcium-activated potassium channel subunit alpha-1 3778 reviewed Ion channel
Q12830 BXGT013268 Nucleosome-remodeling factor subunit BPTF 2186 reviewed
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q13303 BXGT013336 Voltage-gated potassium channel subunit beta-2 8514 reviewed Ion channel
Q13363 BXGT013344 C-terminal-binding protein 1 1487 reviewed Transcription factor
Q13426 BXGT013353 DNA repair protein XRCC4 7518 reviewed
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q14004 BXGT013435 Cyclin-dependent kinase 13 8621 reviewed Kinase
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14315 BXGT013460 Filamin-C 2318 reviewed
Q14332 BXGT013462 Frizzled-2 2535 reviewed G-protein coupled receptor
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
Q15067 BXGT013532 Peroxisomal acyl-coenzyme A oxidase 1 51 reviewed Enzyme
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q15131 BXGT013545 Cyclin-dependent kinase 10 8558 reviewed Kinase
Q15233 BXGT013552 Non-POU domain-containing octamer-binding protein 4841 reviewed Nucleic acid binding
Q15392 BXGT013566 Delta(24)-sterol reductase 1718 reviewed Enzyme
Q15652 BXGT013587 Probable JmjC domain-containing histone demethylation protein 2C 221037 reviewed
Q15842 BXGT013607 ATP-sensitive inward rectifier potassium channel 8 3764 reviewed Ion channel
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q6NUK1 BXGT016429 Calcium-binding mitochondrial carrier protein SCaMC-1 29957 reviewed Transporter
Q6NVY1 BXGT016432 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial 26275 reviewed Enzyme
Q6PCD5 BXGT016464 E3 ubiquitin-protein ligase RFWD3 55159 reviewed Enzyme
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q86UE8 BXGT017612 Serine/threonine-protein kinase tousled-like 2 11011 reviewed Kinase
Q86YC2 BXGT017633 Partner and localizer of BRCA2 79728 reviewed
Q8IYD8 BXGT018367 Fanconi anemia group M protein 57697 reviewed Enzyme
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8WWQ0 BXGT019003 PH-interacting protein 55023 reviewed Epigenetic regulator
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q92794 BXGT019375 Histone acetyltransferase KAT6A 7994 reviewed Enzyme
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
Q96AX1 BXGT019620 Vacuolar protein sorting-associated protein 33A 65082 reviewed Transporter
Q9H4W6 BXGT020478 Transcription factor COE3 253738 reviewed
Q9NPD8 BXGT021152 Ubiquitin-conjugating enzyme E2 T 29089 reviewed
Q9NPI8 BXGT021161 Fanconi anemia group F protein 2188 reviewed
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9NW38 BXGT021230 E3 ubiquitin-protein ligase FANCL 55120 reviewed Enzyme
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
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
Q9UHD8 BXGT021698 Septin-9 10801 reviewed Enzyme modulator
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UI95 BXGT021714 Mitotic spindle assembly checkpoint protein MAD2B 10459 reviewed
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9UQM7 BXGT021814 Calcium/calmodulin-dependent protein kinase type II subunit alpha 815 reviewed Kinase
Q9Y223 BXGT022207 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 10020 reviewed Enzyme
Q9Y4D7 BXGT022275 Plexin-D1 23129 reviewed
Q9Y5P4 BXGT022298 Collagen type IV alpha-3-binding protein 10087 reviewed Transporter
Q9Y5W7 BXGT022783 Sorting nexin-14 57231 reviewed Enzyme modulator
Q01543 BXGT023137 Friend leukemia integration 1 transcription factor 2313 reviewed Transcription factor
Q92785 BXGT023424 Zinc finger protein ubi-d4 5977 reviewed Enzyme
Q9NPF4 BXGT024113 Probable tRNA N6-adenosine threonylcarbamoyltransferase 55644 reviewed Enzyme
P08123 BXGT024477 Collagen alpha-2(I) chain 1278 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q05086 BXGT025648 Ubiquitin-protein ligase E3A 7337 reviewed
Q7Z699 BXGT025789 Sprouty-related, EVH1 domain-containing protein 1 161742 reviewed Receptor
P35250 BXGT025854 Replication factor C subunit 2 5982 reviewed Enzyme
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