Showing entry for Downward slant of palpebral fissure


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008471
Disease NameDownward slant of palpebral fissure
Disease CUI IdC0423110
MeSH Codes   
Disease Class Name
Semantic TypeFinding
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
O00444 BXGT003921 Serine/threonine-protein kinase PLK4 10733 reviewed Kinase
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
O14646 BXGT004079 Chromodomain-helicase-DNA-binding protein 1 1105 reviewed
O15399 BXGT004164 Glutamate receptor ionotropic, NMDA 2D 2906 reviewed Ion channel
O43318 BXGT004586 Mitogen-activated protein kinase kinase kinase 7 6885 reviewed Kinase
O43683 BXGT004614 Mitotic checkpoint serine/threonine-protein kinase BUB1 699 reviewed Kinase
O60341 BXGT004873 Lysine-specific histone demethylase 1A 23028 reviewed Epigenetic regulator
O60488 BXGT004878 Long-chain-fatty-acid--CoA ligase 4 2182 reviewed Enzyme
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O60741 BXGT004897 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 348980 reviewed
O75496 BXGT005132 Geminin 51053 reviewed
O75530 BXGT005135 Polycomb protein EED 8726 reviewed
O75844 BXGT005156 CAAX prenyl protease 1 homolog 10269 reviewed Enzyme
O75914 BXGT005165 Serine/threonine-protein kinase PAK 3 5063 reviewed Kinase
O94766 BXGT005330 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 26229 reviewed Enzyme
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
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
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P07237 BXGT006576 Protein disulfide-isomerase 5034 reviewed
P07510 BXGT006631 Acetylcholine receptor subunit gamma 1146 reviewed Ion channel
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P10301 BXGT007556 Ras-related protein R-Ras 6237 reviewed Enzyme modulator
P11172 BXGT007665 Uridine 5'-monophosphate synthase 7372 reviewed
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P16389 BXGT008221 Potassium voltage-gated channel subfamily A member 2 3737 reviewed Ion channel
P18507 BXGT008411 Gamma-aminobutyric acid receptor subunit gamma-2 2566 reviewed Ion channel
P21333 BXGT008638 Filamin-A 2316 reviewed
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
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
P29400 BXGT009343 Collagen alpha-5(IV) chain 1287 reviewed
P30153 BXGT009409 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform 5518 reviewed Enzyme
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P32322 BXGT009624 Pyrroline-5-carboxylate reductase 1, mitochondrial 5831 reviewed
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P36507 BXGT009923 Dual specificity mitogen-activated protein kinase kinase 2 5605 reviewed Kinase
P36894 BXGT009939 Bone morphogenetic protein receptor type-1A 657 reviewed Kinase
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P43004 BXGT010348 Excitatory amino acid transporter 2 6506 reviewed Transporter
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P47870 BXGT010591 Gamma-aminobutyric acid receptor subunit beta-2 2561 reviewed Ion channel
P48740 BXGT010659 Mannan-binding lectin serine protease 1 5648 reviewed Enzyme
P49588 BXGT010713 Alanine--tRNA ligase, cytoplasmic 16 reviewed Nucleic acid binding
P50052 BXGT010768 Type-2 angiotensin II receptor 186 reviewed G-protein coupled receptor
P51531 BXGT010851 Probable global transcription activator SNF2L2 6595 reviewed Epigenetic regulator
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P52732 BXGT010948 Kinesin-like protein KIF11 3832 reviewed Cellular structure
P55201 BXGT011109 Peregrin 7862 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
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P61978 BXGT011399 Heterogeneous nuclear ribonucleoprotein K 3190 reviewed Enzyme
P61981 BXGT011400 14-3-3 protein gamma 7532 reviewed Chaperone
P62258 BXGT011415 14-3-3 protein epsilon 7531 reviewed Chaperone
P62857 BXGT011466 40S ribosomal protein S28 6234 reviewed Nucleic acid binding
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
P69905 BXGT011649 Hemoglobin subunit alpha 3040 reviewed
P80404 BXGT011907 4-aminobutyrate aminotransferase, mitochondrial 18 reviewed Enzyme
P98164 BXGT012230 Low-density lipoprotein receptor-related protein 2 4036 reviewed
Q00610 BXGT012539 Clathrin heavy chain 1 1213 reviewed Transporter
Q00975 BXGT012558 Voltage-dependent N-type calcium channel subunit alpha-1B 774 reviewed Ion channel
Q01974 BXGT012628 Tyrosine-protein kinase transmembrane receptor ROR2 4920 reviewed Kinase
Q02127 BXGT012635 Dihydroorotate dehydrogenase (quinone), mitochondrial 1723 reviewed Enzyme
Q02224 BXGT012643 Centromere-associated protein E 1062 reviewed Cellular structure
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q05193 BXGT012810 Dynamin-1 1759 reviewed Enzyme modulator
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
Q10469 BXGT013200 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 4247 reviewed Enzyme
Q12797 BXGT013266 Aspartyl/asparaginyl beta-hydroxylase 444 reviewed
Q12830 BXGT013268 Nucleosome-remodeling factor subunit BPTF 2186 reviewed
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14332 BXGT013462 Frizzled-2 2535 reviewed G-protein coupled receptor
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q14721 BXGT013502 Potassium voltage-gated channel subfamily B member 1 3745 reviewed Ion channel
Q15022 BXGT013523 Polycomb protein SUZ12 23512 reviewed Nucleic acid binding
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q15223 BXGT013551 Nectin-1 5818 reviewed
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
Q15751 BXGT013593 Probable E3 ubiquitin-protein ligase HERC1 8925 reviewed Enzyme modulator
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q16620 BXGT013645 BDNF/NT-3 growth factors receptor 4915 reviewed Kinase
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q6NUK1 BXGT016429 Calcium-binding mitochondrial carrier protein SCaMC-1 29957 reviewed Transporter
Q6UX04 BXGT016571 Spliceosome-associated protein CWC27 homolog 10283 reviewed Enzyme
Q7L3T8 BXGT016994 Probable proline--tRNA ligase, mitochondrial 25973 reviewed Enzyme
Q86YC2 BXGT017633 Partner and localizer of BRCA2 79728 reviewed
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
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
Q96C36 BXGT019631 Pyrroline-5-carboxylate reductase 2 29920 reviewed
Q99798 BXGT019962 Aconitate hydratase, mitochondrial 50 reviewed Enzyme
Q9BWP8 BXGT020153 Collectin-11 78989 reviewed Surfactant
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9H4W6 BXGT020478 Transcription factor COE3 253738 reviewed
Q9NS87 BXGT021201 Kinesin-like protein KIF15 56992 reviewed Cellular structure
Q9NY46 BXGT021248 Sodium channel protein type 3 subunit alpha 6328 reviewed Ion channel
Q9NZN1 BXGT021279 Interleukin-1 receptor accessory protein-like 1 11141 reviewed Receptor
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UGL1 BXGT021685 Lysine-specific demethylase 5B 10765 reviewed Epigenetic regulator
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9UQM7 BXGT021814 Calcium/calmodulin-dependent protein kinase type II subunit alpha 815 reviewed Kinase
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q01543 BXGT023137 Friend leukemia integration 1 transcription factor 2313 reviewed Transcription factor
Q92785 BXGT023424 Zinc finger protein ubi-d4 5977 reviewed Enzyme
Q53GS7 BXGT023762 Nucleoporin GLE1 2733 reviewed Transporter
Q9NPF4 BXGT024113 Probable tRNA N6-adenosine threonylcarbamoyltransferase 55644 reviewed Enzyme
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 reviewed Epigenetic regulator
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
Q96MF2 BXGT025769 SH3 and cysteine-rich domain-containing protein 3 246329 reviewed
Q7Z699 BXGT025789 Sprouty-related, EVH1 domain-containing protein 1 161742 reviewed Receptor
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
Q8WXI2 BXGT026145 Connector enhancer of kinase suppressor of ras 2 22866 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