Showing entry for Rett Syndrome



                               
General Disease Information
BXGD IdBXGD002544
Disease NameRett Syndrome
Disease CUI IdC0035372
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:150  
Disease Ontology Class Namedisease of mental health
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
O00757 BXGT003946 Fructose-1,6-bisphosphatase isozyme 2 8789 reviewed Enzyme
O14764 BXGT004094 Gamma-aminobutyric acid receptor subunit delta 2563 reviewed Ion channel
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O75311 BXGT005109 Glycine receptor subunit alpha-3 8001 reviewed Ion channel
O75628 BXGT005140 GTP-binding protein REM 1 28954 reviewed
O75899 BXGT005161 Gamma-aminobutyric acid type B receptor subunit 2 9568 reviewed G-protein coupled receptor
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O95278 BXGT005370 Laforin 7957 reviewed
P00367 BXGT005517 Glutamate dehydrogenase 1, mitochondrial 2746 reviewed Enzyme
P00390 BXGT005526 Glutathione reductase, mitochondrial 2936 reviewed Enzyme
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P01130 BXGT005735 Low-density lipoprotein receptor 3949 reviewed
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02746 BXGT005938 Complement C1q subcomponent subunit B 713 reviewed
P02747 BXGT005939 Complement C1q subcomponent subunit C 714 reviewed
P02766 BXGT005953 Transthyretin 7276 reviewed Transporter
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04731 BXGT006251 Metallothionein-1A 4489 reviewed
P06730 BXGT006487 Eukaryotic translation initiation factor 4E 1977 reviewed Nucleic acid binding
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08246 BXGT006756 Neutrophil elastase 1991 reviewed Enzyme
P08581 BXGT006794 Hepatocyte growth factor receptor 4233 reviewed Kinase
P08620 BXGT006800 Fibroblast growth factor 4 2249 reviewed Signaling
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P09104 BXGT006856 Gamma-enolase 2026 reviewed Enzyme
P09467 BXGT006893 Fructose-1,6-bisphosphatase 1 2203 reviewed Enzyme
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10909 BXGT007630 Clusterin 1191 reviewed
P11137 BXGT007656 Microtubule-associated protein 2 4133 reviewed
P12235 BXGT007774 ADP/ATP translocase 1 291 reviewed Transporter
P14207 BXGT007993 Folate receptor beta 2350 reviewed
P15328 BXGT008108 Folate receptor alpha 2348 reviewed
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16050 BXGT008184 Arachidonate 15-lipoxygenase 246 reviewed Enzyme
P16220 BXGT008206 Cyclic AMP-responsive element-binding protein 1 1385 reviewed
P16389 BXGT008221 Potassium voltage-gated channel subfamily A member 2 3737 reviewed Ion channel
P17936 BXGT008357 Insulin-like growth factor-binding protein 3 3486 reviewed Enzyme modulator
P18031 BXGT008369 Tyrosine-protein phosphatase non-receptor type 1 5770 reviewed
P18887 BXGT008437 DNA repair protein XRCC1 7515 reviewed
P19838 BXGT008526 Nuclear factor NF-kappa-B p105 subunit 4790 reviewed Transcription factor
P22314 BXGT008755 Ubiquitin-like modifier-activating enzyme 1 7317 reviewed Enzyme
P23416 BXGT008865 Glycine receptor subunit alpha-2 2742 reviewed Ion channel
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P27815 BXGT009208 cAMP-specific 3',5'-cyclic phosphodiesterase 4A 5141 reviewed
P28329 BXGT009251 Choline O-acetyltransferase 1103 reviewed Enzyme
P28472 BXGT009260 Gamma-aminobutyric acid receptor subunit beta-3 2562 reviewed Ion channel
P29074 BXGT009313 Tyrosine-protein phosphatase non-receptor type 4 5775 reviewed
P30626 BXGT009450 Sorcin 6717 reviewed
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P34903 BXGT009769 Gamma-aminobutyric acid receptor subunit alpha-3 2556 reviewed Ion channel
P34969 BXGT009777 5-hydroxytryptamine receptor 7 3363 reviewed G-protein coupled receptor
P35228 BXGT009800 Nitric oxide synthase, inducible 4843 reviewed
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P40933 BXGT010209 Interleukin-15 3600 reviewed
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
P42262 BXGT010294 Glutamate receptor 2 2891 reviewed Ion channel
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P49448 BXGT010709 Glutamate dehydrogenase 2, mitochondrial 2747 reviewed Enzyme
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49810 BXGT010747 Presenilin-2 5664 reviewed Enzyme
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
P51617 BXGT010868 Interleukin-1 receptor-associated kinase 1 3654 reviewed Kinase
P51649 BXGT010872 Succinate-semialdehyde dehydrogenase, mitochondrial 7915 reviewed Enzyme
P54132 BXGT011032 Bloom syndrome protein 641 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P61106 BXGT011360 Ras-related protein Rab-14 51552 reviewed
P62805 BXGT011457 Histone H4 8370 reviewed
P63279 BXGT011514 SUMO-conjugating enzyme UBC9 7329 reviewed
P68363 BXGT011594 Tubulin alpha-1B chain 10376 reviewed Cellular structure
P78563 BXGT011850 Double-stranded RNA-specific editase 1 104 reviewed Enzyme
Q02363 BXGT012650 DNA-binding protein inhibitor ID-2 3398 reviewed Transcription factor
Q05193 BXGT012810 Dynamin-1 1759 reviewed Enzyme modulator
Q05586 BXGT012826 Glutamate receptor ionotropic, NMDA 1 2902 reviewed Ion channel
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q14191 BXGT013452 Werner syndrome ATP-dependent helicase 7486 reviewed Enzyme
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q14721 BXGT013502 Potassium voltage-gated channel subfamily B member 1 3745 reviewed Ion channel
Q14831 BXGT013506 Metabotropic glutamate receptor 7 2917 reviewed G-protein coupled receptor
Q15109 BXGT013537 Advanced glycosylation end product-specific receptor 177 reviewed Receptor
Q15118 BXGT013540 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial 5163 reviewed Kinase
Q15652 BXGT013587 Probable JmjC domain-containing histone demethylation protein 2C 221037 reviewed
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q16775 BXGT013669 Hydroxyacylglutathione hydrolase, mitochondrial 3029 reviewed
Q2TU34 BXGT014223 Fructose-1,6-bisphosphatase 1 2203 unreviewed
Q86TM3 BXGT017607 Probable ATP-dependent RNA helicase DDX53 168400 reviewed
Q8IXJ6 BXGT018362 NAD-dependent protein deacetylase sirtuin-2 22933 reviewed Epigenetic regulator
Q92769 BXGT019370 Histone deacetylase 2 3066 reviewed Epigenetic regulator
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q96CW9 BXGT019634 Netrin-G2 84628 reviewed Enzyme modulator
Q99623 BXGT019941 Prohibitin-2 11331 reviewed
Q99653 BXGT019945 Calcineurin B homologous protein 1 11261 reviewed
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9H2X9 BXGT020459 Solute carrier family 12 member 5 57468 reviewed Transporter
Q9UBB5 BXGT021649 Methyl-CpG-binding domain protein 2 8932 reviewed Epigenetic regulator
Q9UBN7 BXGT021658 Histone deacetylase 6 10013 reviewed Epigenetic regulator
Q9UBS5 BXGT021662 Gamma-aminobutyric acid type B receptor subunit 1 2550 reviewed G-protein coupled receptor
Q9Y2I2 BXGT022236 Netrin-G1 22854 reviewed Enzyme modulator
Q9Y2T6 BXGT022247 G-protein coupled receptor 55 9290 reviewed G-protein coupled receptor
Q9Y618 BXGT022315 Nuclear receptor corepressor 2 9612 reviewed Transcription factor
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q05086 BXGT025648 Ubiquitin-protein ligase E3A 7337 reviewed
Q8TAB3 BXGT025819 Protocadherin-19 57526 reviewed
Q96AE4 BXGT025980 Far upstream element-binding protein 1 8880 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