Showing entry for Episodic Kinesigenic Dyskinesia 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD023473
Disease NameEpisodic Kinesigenic Dyskinesia 1
Disease CUI IdC4552000
MeSH Codes C23   C10  
Disease Class NamePathological Conditions, Signs and Symptoms; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease of anatomical entity
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
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00742 BXGT005636 Coagulation factor X 2159 reviewed Enzyme
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P05156 BXGT006329 Complement factor I 3426 reviewed
P05771 BXGT006384 Protein kinase C beta type 5579 reviewed Kinase
P06454 BXGT006441 Prothymosin alpha 5757 reviewed
P07148 BXGT006559 Fatty acid-binding protein, liver 2168 reviewed
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P07711 BXGT006661 Cathepsin L1 1514 reviewed Enzyme
P07741 BXGT006666 Adenine phosphoribosyltransferase 353 reviewed
P08588 BXGT006795 Beta-1 adrenergic receptor 153 reviewed G-protein coupled receptor
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P09466 BXGT006892 Glycodelin 5047 reviewed Enzyme
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P12931 BXGT007859 Proto-oncogene tyrosine-protein kinase Src 6714 reviewed Kinase
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P13569 BXGT007923 Cystic fibrosis transmembrane conductance regulator 1080 reviewed Ion channel
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16581 BXGT008245 E-selectin 6401 reviewed
P17252 BXGT008294 Protein kinase C alpha type 5578 reviewed Kinase
P17658 BXGT008326 Potassium voltage-gated channel subfamily A member 6 3742 reviewed Ion channel
P17861 BXGT008348 X-box-binding protein 1 7494 reviewed
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P22460 BXGT008774 Potassium voltage-gated channel subfamily A member 5 3741 reviewed Ion channel
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29320 BXGT009332 Ephrin type-A receptor 3 2042 reviewed Kinase
P30518 BXGT009428 Vasopressin V2 receptor 554 reviewed G-protein coupled receptor
P30613 BXGT009447 Pyruvate kinase PKLR 5313 reviewed Kinase
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35346 BXGT009813 Somatostatin receptor type 5 6755 reviewed G-protein coupled receptor
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
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
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P43681 BXGT010407 Neuronal acetylcholine receptor subunit alpha-4 1137 reviewed Ion channel
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46937 BXGT010554 Transcriptional coactivator YAP1 10413 reviewed Enzyme modulator
P48147 BXGT010620 Prolyl endopeptidase 5550 reviewed Enzyme
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49585 BXGT010712 Choline-phosphate cytidylyltransferase A 5130 reviewed
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
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
P62942 BXGT011474 Peptidyl-prolyl cis-trans isomerase FKBP1A 2280 reviewed Enzyme
P63244 BXGT011510 Receptor of activated protein C kinase 1 10399 reviewed
P80188 BXGT011882 Neutrophil gelatinase-associated lipocalin 3934 reviewed Enzyme
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q09428 BXGT013036 ATP-binding cassette sub-family C member 8 6833 reviewed Transporter
Q09470 BXGT013037 Potassium voltage-gated channel subfamily A member 1 3736 reviewed Ion channel
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13541 BXGT013371 Eukaryotic translation initiation factor 4E-binding protein 1 1978 reviewed Nucleic acid binding
Q13563 BXGT013377 Polycystin-2 5311 reviewed Ion channel
Q14573 BXGT013486 Inositol 1,4,5-trisphosphate receptor type 3 3710 reviewed Ion channel
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q15118 BXGT013540 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial 5163 reviewed Kinase
Q15139 BXGT013546 Serine/threonine-protein kinase D1 5587 reviewed Kinase
Q15831 BXGT013604 Serine/threonine-protein kinase STK11 6794 reviewed Kinase
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q59FK2 BXGT015276 Selenocysteine lyase variant 51540 unreviewed
Q68DC2 BXGT016189 Ankyrin repeat and SAM domain-containing protein 6 203286 reviewed
Q8NER1 BXGT018556 Transient receptor potential cation channel subfamily V member 1 7442 reviewed Ion channel
Q96I15 BXGT019674 Selenocysteine lyase 51540 reviewed Enzyme
Q96J66 BXGT019680 ATP-binding cassette sub-family C member 11 85320 reviewed Transporter
Q99527 BXGT019930 G-protein coupled estrogen receptor 1 2852 reviewed G-protein coupled receptor
Q99755 BXGT019958 Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha 8394 reviewed Kinase
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9NYA1 BXGT021254 Sphingosine kinase 1 8877 reviewed Kinase
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9Y2R2 BXGT022243 Tyrosine-protein phosphatase non-receptor type 22 26191 reviewed
O60359 BXGT022652 Voltage-dependent calcium channel gamma-3 subunit 10368 reviewed Ion channel
Q92482 BXGT022676 Aquaporin-3 360 reviewed Ion channel
P00738 BXGT022874 Haptoglobin 3240 reviewed Enzyme
P35523 BXGT023831 Chloride channel protein 1 1180 reviewed Ion channel
Q8IZA0 BXGT025026 Dyslexia-associated protein KIAA0319-like protein 79932 reviewed
Q86SG6 BXGT026136 Serine/threonine-protein kinase Nek8 284086 reviewed Kinase
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