Showing entry for Fragile X Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001072
Disease NameFragile X Syndrome
Disease CUI IdC0016667
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic disease
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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O00408 BXGT003916 cGMP-dependent 3',5'-cyclic phosphodiesterase 5138 reviewed
O00755 BXGT003945 Protein Wnt-7a 7476 reviewed Signaling
O14672 BXGT004081 Disintegrin and metalloproteinase domain-containing protein 10 102 reviewed
O14764 BXGT004094 Gamma-aminobutyric acid receptor subunit delta 2563 reviewed Ion channel
O60885 BXGT004906 Bromodomain-containing protein 4 23476 reviewed Epigenetic regulator
O95985 BXGT005410 DNA topoisomerase 3-beta-1 8940 reviewed Enzyme
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00740 BXGT005634 Coagulation factor IX 2158 reviewed Enzyme
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02647 BXGT005908 Apolipoprotein A-I 335 reviewed
P03950 BXGT006116 Angiogenin 283 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04083 BXGT006147 Annexin A1 301 reviewed
P04278 BXGT006182 Sex hormone-binding globulin 6462 reviewed
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P05187 BXGT006339 Alkaline phosphatase, placental type 250 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06396 BXGT006435 Gelsolin 2934 reviewed Cellular structure
P06730 BXGT006487 Eukaryotic translation initiation factor 4E 1977 reviewed Nucleic acid binding
P07741 BXGT006666 Adenine phosphoribosyltransferase 353 reviewed
P09486 BXGT006897 SPARC 6678 reviewed Signaling
P09923 BXGT006942 Intestinal-type alkaline phosphatase 248 reviewed Enzyme
P10997 BXGT007643 Islet amyloid polypeptide 3375 reviewed Signaling
P11274 BXGT007681 Breakpoint cluster region protein 613 reviewed Enzyme modulator
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16070 BXGT008186 CD44 antigen 960 reviewed
P19174 BXGT008467 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 5335 reviewed Enzyme
P20472 BXGT008578 Parvalbumin alpha 5816 reviewed Calcium-binding protein
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21397 BXGT008644 Amine oxidase [flavin-containing] A 4128 reviewed
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P23443 BXGT008866 Ribosomal protein S6 kinase beta-1 6198 reviewed Kinase
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28223 BXGT009239 5-hydroxytryptamine receptor 2A 3356 reviewed G-protein coupled receptor
P29475 BXGT009353 Nitric oxide synthase, brain 4842 reviewed
P31645 BXGT009558 Sodium-dependent serotonin transporter 6532 reviewed Transporter
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P34998 BXGT009781 Corticotropin-releasing factor receptor 1 1394 reviewed
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P35858 BXGT009876 Insulin-like growth factor-binding protein complex acid labile subunit 3483 reviewed Receptor
P39086 BXGT010093 Glutamate receptor ionotropic, kainate 1 2897 reviewed Ion channel
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
P42262 BXGT010294 Glutamate receptor 2 2891 reviewed Ion channel
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
P42858 BXGT010341 Huntingtin 3064 reviewed
P43004 BXGT010348 Excitatory amino acid transporter 2 6506 reviewed Transporter
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49798 BXGT010745 Regulator of G-protein signaling 4 5999 reviewed Enzyme modulator
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
P51114 BXGT010832 Fragile X mental retardation syndrome-related protein 1 8087 reviewed Nucleic acid binding
P52209 BXGT010923 6-phosphogluconate dehydrogenase, decarboxylating 5226 reviewed Enzyme
P52788 BXGT010953 Spermine synthase 6611 reviewed
P53667 BXGT011008 LIM domain kinase 1 3984 reviewed Kinase
P54829 BXGT011085 Tyrosine-protein phosphatase non-receptor type 5 84867 reviewed
P56470 BXGT011173 Galectin-4 3960 reviewed Signaling
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
P60981 BXGT011344 Destrin 11034 reviewed
P62166 BXGT011412 Neuronal calcium sensor 1 23413 reviewed
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
P78352 BXGT011836 Disks large homolog 4 1742 reviewed Receptor
P78563 BXGT011850 Double-stranded RNA-specific editase 1 104 reviewed Enzyme
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q08499 BXGT012988 cAMP-specific 3',5'-cyclic phosphodiesterase 4D 5144 reviewed
Q08722 BXGT013002 Leukocyte surface antigen CD47 961 reviewed
Q08828 BXGT013008 Adenylate cyclase type 1 107 reviewed
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q13153 BXGT013319 Serine/threonine-protein kinase PAK 1 5058 reviewed Kinase
Q13255 BXGT013332 Metabotropic glutamate receptor 1 2911 reviewed G-protein coupled receptor
Q13873 BXGT013398 Bone morphogenetic protein receptor type-2 659 reviewed Kinase
Q14494 BXGT013474 Endoplasmic reticulum membrane sensor NFE2L1 4779 reviewed Enzyme
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16620 BXGT013645 BDNF/NT-3 growth factors receptor 4915 reviewed Kinase
Q7L576 BXGT016995 Cytoplasmic FMR1-interacting protein 1 23191 reviewed Enzyme modulator
Q7Z2H8 BXGT017247 Proton-coupled amino acid transporter 1 206358 reviewed Transporter
Q8NBP7 BXGT018541 Proprotein convertase subtilisin/kexin type 9 255738 reviewed Enzyme
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q96HC4 BXGT019671 PDZ and LIM domain protein 5 10611 reviewed Cellular structure
Q96RI1 BXGT019727 Bile acid receptor 9971 reviewed Nuclear receptor
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q9H7E2 BXGT020491 Tudor domain-containing protein 3 81550 reviewed
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
Q9UBN7 BXGT021658 Histone deacetylase 6 10013 reviewed Epigenetic regulator
Q9UMF0 BXGT021774 Intercellular adhesion molecule 5 7087 reviewed
Q9UPY3 BXGT021802 Endoribonuclease Dicer 23405 reviewed Enzyme
Q9Y5Y6 BXGT022308 Suppressor of tumorigenicity 14 protein 6768 reviewed Enzyme
Q5KSL6 BXGT022671 Diacylglycerol kinase kappa 139189 reviewed Enzyme
Q9Y5A9 BXGT022868 YTH domain-containing family protein 2 51441 reviewed
P09622 BXGT023116 Dihydrolipoyl dehydrogenase, mitochondrial 1738 reviewed Enzyme
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
P27918 BXGT025485 Properdin 5199 reviewed
Q05086 BXGT025648 Ubiquitin-protein ligase E3A 7337 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