Showing entry for Dysmorphic features


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008718
Disease NameDysmorphic features
Disease CUI IdC0432072
MeSH Codes   
Disease Class Name
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
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
O00189 BXGT003891 AP-4 complex subunit mu-1 9179 reviewed Extracellular structure
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
O00754 BXGT003944 Lysosomal alpha-mannosidase 4125 reviewed
O14770 BXGT004095 Homeobox protein Meis2 4212 reviewed Enzyme
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15054 BXGT004121 Lysine-specific demethylase 6B 23135 reviewed Epigenetic regulator
O15297 BXGT004149 Protein phosphatase 1D 8493 reviewed Enzyme
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O15553 BXGT004181 Pyrin 4210 reviewed
O43854 BXGT004630 EGF-like repeat and discoidin I-like domain-containing protein 3 10085 reviewed Enzyme
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
O60706 BXGT004896 ATP-binding cassette sub-family C member 9 10060 reviewed Transporter
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O95622 BXGT005386 Adenylate cyclase type 5 111 reviewed
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02462 BXGT005881 Collagen alpha-1(IV) chain 1282 reviewed
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P07510 BXGT006631 Acetylcholine receptor subunit gamma 1146 reviewed Ion channel
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P09172 BXGT006865 Dopamine beta-hydroxylase 1621 reviewed
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P10253 BXGT007550 Lysosomal alpha-glucosidase 2548 reviewed Enzyme
P10412 BXGT007566 Histone H1.4 3008 reviewed Nucleic acid binding
P10827 BXGT007623 Thyroid hormone receptor alpha 7067 reviewed Nuclear receptor
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P12235 BXGT007774 ADP/ATP translocase 1 291 reviewed Transporter
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13637 BXGT007933 Sodium/potassium-transporting ATPase subunit alpha-3 478 reviewed Transporter
P14867 BXGT008061 Gamma-aminobutyric acid receptor subunit alpha-1 2554 reviewed Ion channel
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P17787 BXGT008341 Neuronal acetylcholine receptor subunit beta-2 1141 reviewed Ion channel
P17936 BXGT008357 Insulin-like growth factor-binding protein 3 3486 reviewed Enzyme modulator
P20930 BXGT008616 Filaggrin 2312 reviewed Cellular structure
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
P21695 BXGT008682 Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic 2819 reviewed Enzyme
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P22681 BXGT008795 E3 ubiquitin-protein ligase CBL 867 reviewed Enzyme
P23219 BXGT008837 Prostaglandin G/H synthase 1 5742 reviewed Enzyme
P23786 BXGT008906 Carnitine O-palmitoyltransferase 2, mitochondrial 1376 reviewed Enzyme
P24468 BXGT008969 COUP transcription factor 2 7026 reviewed Nuclear receptor
P26196 BXGT009089 Probable ATP-dependent RNA helicase DDX6 1656 reviewed
P28472 BXGT009260 Gamma-aminobutyric acid receptor subunit beta-3 2562 reviewed Ion channel
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P30084 BXGT009398 Enoyl-CoA hydratase, mitochondrial 1892 reviewed Enzyme
P30279 BXGT009415 G1/S-specific cyclin-D2 894 reviewed Enzyme modulator
P30518 BXGT009428 Vasopressin V2 receptor 554 reviewed G-protein coupled receptor
P30531 BXGT009432 Sodium- and chloride-dependent GABA transporter 1 6529 reviewed Transporter
P32322 BXGT009624 Pyrroline-5-carboxylate reductase 1, mitochondrial 5831 reviewed
P34059 BXGT009749 N-acetylgalactosamine-6-sulfatase 2588 reviewed Enzyme
P34903 BXGT009769 Gamma-aminobutyric acid receptor subunit alpha-3 2556 reviewed Ion channel
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P35916 BXGT009881 Vascular endothelial growth factor receptor 3 2324 reviewed Kinase
P36021 BXGT009893 Monocarboxylate transporter 8 6567 reviewed Transporter
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P41143 BXGT010223 Delta-type opioid receptor 4985 reviewed G-protein coupled receptor
P41180 BXGT010230 Extracellular calcium-sensing receptor 846 reviewed G-protein coupled receptor
P41229 BXGT010239 Lysine-specific demethylase 5C 8242 reviewed
P41235 BXGT010241 Hepatocyte nuclear factor 4-alpha 3172 reviewed Nuclear receptor
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42858 BXGT010341 Huntingtin 3064 reviewed
P43007 BXGT010350 Neutral amino acid transporter A 6509 reviewed Transporter
P43235 BXGT010368 Cathepsin K 1513 reviewed Enzyme
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P46821 BXGT010542 Microtubule-associated protein 1B 4131 reviewed Cellular structure
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P49419 BXGT010705 Alpha-aminoadipic semialdehyde dehydrogenase 501 reviewed Enzyme
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P51531 BXGT010851 Probable global transcription activator SNF2L2 6595 reviewed Epigenetic regulator
P51572 BXGT010859 B-cell receptor-associated protein 31 10134 reviewed Transporter
P51688 BXGT010883 N-sulphoglucosamine sulphohydrolase 6448 reviewed Enzyme
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P52732 BXGT010948 Kinesin-like protein KIF11 3832 reviewed Cellular structure
P54802 BXGT011081 Alpha-N-acetylglucosaminidase 4669 reviewed
P55201 BXGT011109 Peregrin 7862 reviewed
P55263 BXGT011115 Adenosine kinase 132 reviewed Kinase
P58400 BXGT011235 Neurexin-1-beta 9378 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
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P61978 BXGT011399 Heterogeneous nuclear ribonucleoprotein K 3190 reviewed Enzyme
P62258 BXGT011415 14-3-3 protein epsilon 7531 reviewed Chaperone
P62266 BXGT011416 40S ribosomal protein S23 6228 reviewed Nucleic acid binding
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
P68133 BXGT011578 Actin, alpha skeletal muscle 58 reviewed Cellular structure
P68400 BXGT011599 Casein kinase II subunit alpha 1457 reviewed Kinase
P78504 BXGT011844 Protein jagged-1 182 reviewed
P98155 BXGT012226 Very low-density lipoprotein receptor 7436 reviewed
Q00610 BXGT012539 Clathrin heavy chain 1 1213 reviewed Transporter
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q01453 BXGT012588 Peripheral myelin protein 22 5376 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
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q05193 BXGT012810 Dynamin-1 1759 reviewed Enzyme modulator
Q05586 BXGT012826 Glutamate receptor ionotropic, NMDA 1 2902 reviewed Ion channel
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
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
Q12809 BXGT013267 Potassium voltage-gated channel subfamily H member 2 3757 reviewed Ion channel
Q12830 BXGT013268 Nucleosome-remodeling factor subunit BPTF 2186 reviewed
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q13618 BXGT013382 Cullin-3 8452 reviewed
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q13936 BXGT013404 Voltage-dependent L-type calcium channel subunit alpha-1C 775 reviewed Ion channel
Q14004 BXGT013435 Cyclin-dependent kinase 13 8621 reviewed Kinase
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
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
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q5JTZ9 BXGT015458 Alanine--tRNA ligase, mitochondrial 57505 reviewed Nucleic acid binding
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q86UE8 BXGT017612 Serine/threonine-protein kinase tousled-like 2 11011 reviewed Kinase
Q8IWS0 BXGT018356 PHD finger protein 6 84295 reviewed Nucleic acid binding
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8TD30 BXGT018805 Alanine aminotransferase 2 84706 reviewed Enzyme
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
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
Q96IV0 BXGT019677 Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase 55768 reviewed Enzyme
Q96J02 BXGT019679 E3 ubiquitin-protein ligase Itchy homolog 83737 reviewed Enzyme
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q9BXJ9 BXGT020170 N-alpha-acetyltransferase 15, NatA auxiliary subunit 80155 reviewed Enzyme
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9H4W6 BXGT020478 Transcription factor COE3 253738 reviewed
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9H9B1 BXGT020501 Histone-lysine N-methyltransferase EHMT1 79813 reviewed Epigenetic regulator
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9HD42 BXGT020543 Charged multivesicular body protein 1a 5119 reviewed
Q9NSE4 BXGT021207 Isoleucine--tRNA ligase, mitochondrial 55699 reviewed Enzyme
Q9NWU1 BXGT021235 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial 54995 reviewed
Q9NZJ4 BXGT021274 Sacsin 26278 reviewed
Q9NZN1 BXGT021279 Interleukin-1 receptor accessory protein-like 1 11141 reviewed Receptor
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UHD8 BXGT021698 Septin-9 10801 reviewed Enzyme modulator
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9UPP1 BXGT021800 Histone lysine demethylase PHF8 23133 reviewed
Q9UPY3 BXGT021802 Endoribonuclease Dicer 23405 reviewed Enzyme
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y243 BXGT022214 RAC-gamma serine/threonine-protein kinase 10000 reviewed Kinase
Q9Y2H9 BXGT022234 Microtubule-associated serine/threonine-protein kinase 1 22983 reviewed Kinase
Q9Y4U1 BXGT022285 Methylmalonic aciduria and homocystinuria type C protein 25974 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q92847 BXGT022673 Growth hormone secretagogue receptor type 1 2693 reviewed G-protein coupled receptor
Q01543 BXGT023137 Friend leukemia integration 1 transcription factor 2313 reviewed Transcription factor
Q8TBZ3 BXGT023141 WD repeat-containing protein 20 91833 reviewed
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
Q9UBP0 BXGT023601 Spastin 6683 reviewed Cellular structure
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q53GS7 BXGT023762 Nucleoporin GLE1 2733 reviewed Transporter
Q9NPF4 BXGT024113 Probable tRNA N6-adenosine threonylcarbamoyltransferase 55644 reviewed Enzyme
P08123 BXGT024477 Collagen alpha-2(I) chain 1278 reviewed
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 reviewed Epigenetic regulator
A6NHR9 BXGT024875 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 23347 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
Q96MF2 BXGT025769 SH3 and cysteine-rich domain-containing protein 3 246329 reviewed
Q7Z699 BXGT025789 Sprouty-related, EVH1 domain-containing protein 1 161742 reviewed Receptor
Q8TAB3 BXGT025819 Protocadherin-19 57526 reviewed
Q6UVJ0 BXGT026024 Spindle assembly abnormal protein 6 homolog 163786 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