Showing entry for Coarse facial features


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD014760
Disease NameCoarse facial features
Disease CUI IdC1845847
MeSH Codes C23  
Disease Class NamePathological Conditions, Signs and Symptoms
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
O00189 BXGT003891 AP-4 complex subunit mu-1 9179 reviewed Extracellular structure
O00443 BXGT003920 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 5286 reviewed Kinase
O00754 BXGT003944 Lysosomal alpha-mannosidase 4125 reviewed
O14773 BXGT004096 Tripeptidyl-peptidase 1 1200 reviewed Enzyme
O15247 BXGT004142 Chloride intracellular channel protein 2 1193 reviewed Ion channel
O60706 BXGT004896 ATP-binding cassette sub-family C member 9 10060 reviewed Transporter
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P04066 BXGT006142 Tissue alpha-L-fucosidase 2517 reviewed
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P06280 BXGT006433 Alpha-galactosidase A 2717 reviewed
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P07686 BXGT006657 Beta-hexosaminidase subunit beta 3074 reviewed Enzyme
P08236 BXGT006752 Beta-glucuronidase 2990 reviewed
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P10619 BXGT007589 Lysosomal protective protein 5476 reviewed Enzyme
P10827 BXGT007623 Thyroid hormone receptor alpha 7067 reviewed Nuclear receptor
P10828 BXGT007624 Thyroid hormone receptor beta 7068 reviewed Nuclear receptor
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15428 BXGT008121 15-hydroxyprostaglandin dehydrogenase [NAD(+)] 3248 reviewed
P15848 BXGT008162 Arylsulfatase B 411 reviewed
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P16473 BXGT008234 Thyrotropin receptor 7253 reviewed G-protein coupled receptor
P17050 BXGT008277 Alpha-N-acetylgalactosaminidase 4668 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P20933 BXGT008618 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase 175 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P34059 BXGT009749 N-acetylgalactosamine-6-sulfatase 2588 reviewed Enzyme
P35475 BXGT009837 Alpha-L-iduronidase 3425 reviewed Enzyme
P36507 BXGT009923 Dual specificity mitogen-activated protein kinase kinase 2 5605 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P50281 BXGT010788 Matrix metalloproteinase-14 4323 reviewed Enzyme
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51688 BXGT010883 N-sulphoglucosamine sulphohydrolase 6448 reviewed Enzyme
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
P52952 BXGT010966 Homeobox protein Nkx-2.5 1482 reviewed Transcription factor
P53667 BXGT011008 LIM domain kinase 1 3984 reviewed Kinase
P54802 BXGT011081 Alpha-N-acetylglucosaminidase 4669 reviewed
P58335 BXGT011233 Anthrax toxin receptor 2 118429 reviewed Receptor
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q06710 BXGT012887 Paired box protein Pax-8 7849 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q14839 BXGT013509 Chromodomain-helicase-DNA-binding protein 4 1108 reviewed
Q15842 BXGT013607 ATP-sensitive inward rectifier potassium channel 8 3764 reviewed Ion channel
Q8IV48 BXGT018339 3'-5' exoribonuclease 1 90459 reviewed Enzyme
Q8IWS0 BXGT018356 PHD finger protein 6 84295 reviewed Nucleic acid binding
Q8NBK3 BXGT018538 Formylglycine-generating enzyme 285362 reviewed
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q92959 BXGT019400 Solute carrier organic anion transporter family member 2A1 6578 reviewed Transporter
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
Q99519 BXGT019928 Sialidase-1 4758 reviewed Enzyme
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9C0B1 BXGT020209 Alpha-ketoglutarate-dependent dioxygenase FTO 79068 reviewed
Q9H9B1 BXGT020501 Histone-lysine N-methyltransferase EHMT1 79813 reviewed Epigenetic regulator
Q9NS87 BXGT021201 Kinesin-like protein KIF15 56992 reviewed Cellular structure
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9Y223 BXGT022207 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 10020 reviewed Enzyme
Q9Y263 BXGT022220 Phospholipase A-2-activating protein 9373 reviewed Enzyme modulator
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q92911 BXGT022650 Sodium/iodide cotransporter 6528 reviewed Transporter
Q9Y5W7 BXGT022783 Sorting nexin-14 57231 reviewed Enzyme modulator
Q92785 BXGT023424 Zinc finger protein ubi-d4 5977 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
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