Showing entry for Profound intellectual disabilities


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD018511
Disease NameProfound intellectual disabilities
Disease CUI IdC3161330
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   
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
A4D126 BXGT001208 D-ribitol-5-phosphate cytidylyltransferase 729920 reviewed
O00429 BXGT003919 Dynamin-1-like protein 10059 reviewed Enzyme modulator
O00459 BXGT003924 Phosphatidylinositol 3-kinase regulatory subunit beta 5296 reviewed Enzyme modulator
O15247 BXGT004142 Chloride intracellular channel protein 2 1193 reviewed Ion channel
O60488 BXGT004878 Long-chain-fatty-acid--CoA ligase 4 2182 reviewed Enzyme
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O75914 BXGT005165 Serine/threonine-protein kinase PAK 3 5063 reviewed Kinase
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
P10809 BXGT007617 60 kDa heat shock protein, mitochondrial 3329 reviewed
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P26640 BXGT009123 Valine--tRNA ligase 7407 reviewed
P31939 BXGT009584 Bifunctional purine biosynthesis protein PURH 471 reviewed Enzyme
P43004 BXGT010348 Excitatory amino acid transporter 2 6506 reviewed Transporter
P48051 BXGT010611 G protein-activated inward rectifier potassium channel 2 3763 reviewed Ion channel
P50052 BXGT010768 Type-2 angiotensin II receptor 186 reviewed G-protein coupled receptor
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P52788 BXGT010953 Spermine synthase 6611 reviewed
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
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
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
Q96IV0 BXGT019677 Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase 55768 reviewed Enzyme
Q99707 BXGT019952 Methionine synthase 4548 reviewed
Q9HD40 BXGT020542 O-phosphoseryl-tRNA(Sec) selenium transferase 51091 reviewed
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NY65 BXGT021252 Tubulin alpha-8 chain 51807 reviewed Cellular structure
Q9NZN1 BXGT021279 Interleukin-1 receptor accessory protein-like 1 11141 reviewed Receptor
Q9P0K1 BXGT021288 Disintegrin and metalloproteinase domain-containing protein 22 53616 reviewed Enzyme
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y2Z4 BXGT022251 Tyrosine--tRNA ligase, mitochondrial 51067 reviewed Enzyme
Q9Y3Z3 BXGT022268 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 25939 reviewed
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
P07954 BXGT023939 Fumarate hydratase, mitochondrial 2271 reviewed Enzyme
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q96DA2 BXGT025522 Ras-related protein Rab-39B 116442 reviewed
Q8TAB3 BXGT025819 Protocadherin-19 57526 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