Showing entry for Severe intellectual disability


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002638
Disease NameSevere intellectual disability
Disease CUI IdC0036857
MeSH Codes C23   C10   F03   F01  
Disease Class NamePathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Semantic TypeMental or Behavioral Dysfunction
Human Phenotype Ontology Id HP:0000707  
Human Phenotype Ontology TermAbnormality of the nervous system
Disease Ontology Id DOID:630   DOID:150  
Disease Ontology Class Namegenetic disease; disease 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
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
O00217 BXGT003898 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial 4728 reviewed Enzyme
O00483 BXGT003930 Cytochrome c oxidase subunit NDUFA4 4697 reviewed Enzyme
O00571 BXGT003938 ATP-dependent RNA helicase DDX3X 1654 reviewed
O14578 BXGT004072 Citron Rho-interacting kinase 11113 reviewed Kinase
O14832 BXGT004104 Phytanoyl-CoA dioxygenase, peroxisomal 5264 reviewed
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15297 BXGT004149 Protein phosphatase 1D 8493 reviewed Enzyme
O43181 BXGT004576 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial 4724 reviewed
O43497 BXGT004596 Voltage-dependent T-type calcium channel subunit alpha-1G 8913 reviewed Ion channel
O43678 BXGT004613 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 4695 reviewed Enzyme
O60488 BXGT004878 Long-chain-fatty-acid--CoA ligase 4 2182 reviewed Enzyme
O75251 BXGT005107 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial 374291 reviewed
O75306 BXGT005108 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial 4720 reviewed Enzyme
O75489 BXGT005131 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial 4722 reviewed
O75914 BXGT005165 Serine/threonine-protein kinase PAK 3 5063 reviewed Kinase
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O95299 BXGT005372 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial 4705 reviewed Enzyme
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
P00167 BXGT005473 Cytochrome b5 1528 reviewed Enzyme
P00387 BXGT005525 NADH-cytochrome b5 reductase 3 1727 reviewed
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00813 BXGT005667 Adenosine deaminase 100 reviewed Enzyme
P00846 BXGT005674 ATP synthase subunit a 4508 reviewed Transporter
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01308 BXGT005749 Insulin 3630 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02765 BXGT005952 Alpha-2-HS-glycoprotein 197 reviewed Enzyme modulator
P04066 BXGT006142 Tissue alpha-L-fucosidase 2517 reviewed
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P05023 BXGT006294 Sodium/potassium-transporting ATPase subunit alpha-1 476 reviewed Transporter
P05089 BXGT006310 Arginase-1 383 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P07339 BXGT006604 Cathepsin D 1509 reviewed Enzyme
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P15311 BXGT008106 Ezrin 7430 reviewed Cellular structure
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16473 BXGT008234 Thyrotropin receptor 7253 reviewed G-protein coupled receptor
P17050 BXGT008277 Alpha-N-acetylgalactosaminidase 4668 reviewed
P19404 BXGT008477 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial 4729 reviewed
P21397 BXGT008644 Amine oxidase [flavin-containing] A 4128 reviewed
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P24752 BXGT008993 Acetyl-CoA acetyltransferase, mitochondrial 38 reviewed Enzyme
P28331 BXGT009252 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial 4719 reviewed Enzyme
P29218 BXGT009322 Inositol monophosphatase 1 3612 reviewed Enzyme
P30084 BXGT009398 Enoyl-CoA hydratase, mitochondrial 1892 reviewed Enzyme
P31040 BXGT009503 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial 6389 reviewed Enzyme
P31939 BXGT009584 Bifunctional purine biosynthesis protein PURH 471 reviewed Enzyme
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P32322 BXGT009624 Pyrroline-5-carboxylate reductase 1, mitochondrial 5831 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P35557 BXGT009846 Glucokinase 2645 reviewed Kinase
P35914 BXGT009880 Hydroxymethylglutaryl-CoA lyase, mitochondrial 3155 reviewed Enzyme
P36021 BXGT009893 Monocarboxylate transporter 8 6567 reviewed Transporter
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P41229 BXGT010239 Lysine-specific demethylase 5C 8242 reviewed
P42263 BXGT010295 Glutamate receptor 3 2892 reviewed Ion channel
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42858 BXGT010341 Huntingtin 3064 reviewed
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43007 BXGT010350 Neutral amino acid transporter A 6509 reviewed Transporter
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P48051 BXGT010611 G protein-activated inward rectifier potassium channel 2 3763 reviewed Ion channel
P49591 BXGT010715 Serine--tRNA ligase, cytoplasmic 6301 reviewed Enzyme
P49821 BXGT010748 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial 4723 reviewed
P50052 BXGT010768 Type-2 angiotensin II receptor 186 reviewed G-protein coupled receptor
P50135 BXGT010776 Histamine N-methyltransferase 3176 reviewed
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P50897 BXGT010823 Palmitoyl-protein thioesterase 1 5538 reviewed Enzyme
P51531 BXGT010851 Probable global transcription activator SNF2L2 6595 reviewed Epigenetic regulator
P51572 BXGT010859 B-cell receptor-associated protein 31 10134 reviewed Transporter
P51617 BXGT010868 Interleukin-1 receptor-associated kinase 1 3654 reviewed Kinase
P51649 BXGT010872 Succinate-semialdehyde dehydrogenase, mitochondrial 7915 reviewed Enzyme
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P52952 BXGT010966 Homeobox protein Nkx-2.5 1482 reviewed Transcription factor
P54802 BXGT011081 Alpha-N-acetylglucosaminidase 4669 reviewed
P55263 BXGT011115 Adenosine kinase 132 reviewed Kinase
P58400 BXGT011235 Neurexin-1-beta 9378 reviewed
P60763 BXGT011327 Ras-related C3 botulinum toxin substrate 3 5881 reviewed Enzyme modulator
Q00534 BXGT012533 Cyclin-dependent kinase 6 1021 reviewed Kinase
Q00610 BXGT012539 Clathrin heavy chain 1 1213 reviewed Transporter
Q01668 BXGT012605 Voltage-dependent L-type calcium channel subunit alpha-1D 776 reviewed Ion channel
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q03154 BXGT012698 Aminoacylase-1 95 reviewed
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q05193 BXGT012810 Dynamin-1 1759 reviewed Enzyme modulator
Q05586 BXGT012826 Glutamate receptor ionotropic, NMDA 1 2902 reviewed Ion channel
Q06710 BXGT012887 Paired box protein Pax-8 7849 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q09013 BXGT013023 Myotonin-protein kinase 1760 reviewed Kinase
Q09428 BXGT013036 ATP-binding cassette sub-family C member 8 6833 reviewed Transporter
Q10469 BXGT013200 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 4247 reviewed Enzyme
Q11203 BXGT013218 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase 6487 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q13002 BXGT013303 Glutamate receptor ionotropic, kainate 2 2898 reviewed Ion channel
Q13153 BXGT013319 Serine/threonine-protein kinase PAK 1 5058 reviewed Kinase
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q13363 BXGT013344 C-terminal-binding protein 1 1487 reviewed Transcription factor
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q13554 BXGT013374 Calcium/calmodulin-dependent protein kinase type II subunit beta 816 reviewed Kinase
Q13555 BXGT013375 Calcium/calmodulin-dependent protein kinase type II subunit gamma 818 reviewed Kinase
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14353 BXGT013463 Guanidinoacetate N-methyltransferase 2593 reviewed
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q14654 BXGT013495 ATP-sensitive inward rectifier potassium channel 11 3767 reviewed Ion channel
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15067 BXGT013532 Peroxisomal acyl-coenzyme A oxidase 1 51 reviewed Enzyme
Q15599 BXGT013583 Na(+)/H(+) exchange regulatory cofactor NHE-RF2 9351 reviewed
Q15751 BXGT013593 Probable E3 ubiquitin-protein ligase HERC1 8925 reviewed Enzyme modulator
Q15811 BXGT013600 Intersectin-1 6453 reviewed Enzyme modulator
Q16620 BXGT013645 BDNF/NT-3 growth factors receptor 4915 reviewed Kinase
Q16795 BXGT013671 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial 4704 reviewed Enzyme
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q4G0J3 BXGT014809 La-related protein 7 51574 reviewed Nucleic acid binding
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q86SZ2 BXGT017602 Trafficking protein particle complex subunit 6B 122553 reviewed
Q8IWS0 BXGT018356 PHD finger protein 6 84295 reviewed Nucleic acid binding
Q8N183 BXGT018497 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 91942 reviewed
Q8NEM0 BXGT018555 Microcephalin 79648 reviewed Nucleic acid binding
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8NG31 BXGT018565 Kinetochore scaffold 1 57082 reviewed
Q8TCG1 BXGT018797 Protein CIP2A 57650 reviewed
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q92794 BXGT019375 Histone acetyltransferase KAT6A 7994 reviewed Enzyme
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
Q96BZ9 BXGT019629 TBC1 domain family member 20 128637 reviewed
Q96C36 BXGT019631 Pyrroline-5-carboxylate reductase 2 29920 reviewed
Q96SW2 BXGT019743 Protein cereblon 51185 reviewed Enzyme
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q99798 BXGT019962 Aconitate hydratase, mitochondrial 50 reviewed Enzyme
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9H3H5 BXGT020461 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1798 reviewed Enzyme
Q9H4B7 BXGT020475 Tubulin beta-1 chain 81027 reviewed Cellular structure
Q9H8M5 BXGT020496 Metal transporter CNNM2 54805 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
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NZN1 BXGT021279 Interleukin-1 receptor accessory protein-like 1 11141 reviewed Receptor
Q9P0J0 BXGT021287 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 51079 reviewed Enzyme
Q9UGL1 BXGT021685 Lysine-specific demethylase 5B 10765 reviewed Epigenetic regulator
Q9UGM6 BXGT021687 Tryptophan--tRNA ligase, mitochondrial 10352 reviewed
Q9UI09 BXGT021710 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 55967 reviewed
Q9UKE5 BXGT021741 TRAF2 and NCK-interacting protein kinase 23043 reviewed Kinase
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9UPT6 BXGT021801 C-Jun-amino-terminal kinase-interacting protein 3 23162 reviewed Enzyme modulator
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
Q9Y234 BXGT022211 Lipoyltransferase 1, mitochondrial 51601 reviewed Enzyme
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q5KSL6 BXGT022671 Diacylglycerol kinase kappa 139189 reviewed Enzyme
Q9Y5W7 BXGT022783 Sorting nexin-14 57231 reviewed Enzyme modulator
Q96C86 BXGT022803 m7GpppX diphosphatase 28960 reviewed Enzyme
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
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
Q8TAB3 BXGT025819 Protocadherin-19 57526 reviewed
Q9UQE7 BXGT025899 Structural maintenance of chromosomes protein 3 9126 reviewed
Q6UVJ0 BXGT026024 Spindle assembly abnormal protein 6 homolog 163786 reviewed
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