Episodic Kinesigenic Dyskinesia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1970238
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Genes

147 genes associated with the disease Episodic Kinesigenic Dyskinesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACE angiotensin I converting enzyme
ACTB actin, beta
ADRB1 adrenoceptor beta 1
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANKS3 ankyrin repeat and sterile alpha motif domain containing 3
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANO1 anoctamin 1, calcium activated chloride channel
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
AQP1 aquaporin 1 (Colton blood group)
AQP2 aquaporin 2 (collecting duct)
AQP3 aquaporin 3 (Gill blood group)
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNG3 calcium channel, voltage-dependent, gamma subunit 3
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASZ1 castor zinc finger 1
CCL2 chemokine (C-C motif) ligand 2
CCN2 cellular communication network factor 2
CDK5 cyclin-dependent kinase 5
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CLCN1 chloride channel, voltage-sensitive 1
COMT catechol-O-methyltransferase
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSL cathepsin L
CUX1 cut-like homeobox 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
EPHA3 EPH receptor A3
EXOC5 exocyst complex component 5
F10 coagulation factor X
FABP1 fatty acid binding protein 1, liver
FAM188B family with sequence similarity 188, member B
FGF2 fibroblast growth factor 2 (basic)
FKBP1A FK506 binding protein 1A, 12kDa
FN1 fibronectin 1
FNIP1 folliculin interacting protein 1
GAL3ST1 galactose-3-O-sulfotransferase 1
GPER1 G protein-coupled estrogen receptor 1
GPR50 G protein-coupled receptor 50
GPSM1 G-protein signaling modulator 1
GRAP2 GRB2-related adaptor protein 2
GRM5 glutamate receptor, metabotropic 5
GSK3B glycogen synthase kinase 3 beta
GULP1 GULP, engulfment adaptor PTB domain containing 1
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HP haptoglobin
IFT88 intraflagellar transport 88
IGF1 insulin-like growth factor 1 (somatomedin C)
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
JAK2 Janus kinase 2
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNA6 potassium channel, voltage gated shaker related subfamily A, member 6
KDR kinase insert domain receptor
KIAA0319 KIAA0319
KIAA0319L KIAA0319-like
KIF3A kinesin family member 3A
KRT7 keratin 7, type II
LCN2 lipocalin 2
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MFAP1 microfibrillar-associated protein 1
MMP9 matrix metallopeptidase 9
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NEK8 NIMA-related kinase 8
NKX2-1 NK2 homeobox 1
NOTCH3 notch 3
NTS neurotensin
OR10A4 olfactory receptor, family 10, subfamily A, member 4
PAEP progestagen-associated endometrial protein
PAX2 paired box 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4
PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD1L3 polycystic kidney disease 1-like 3
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKD2L1 polycystic kidney disease 2-like 1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PLEK pleckstrin
POC1B POC1 centriolar protein B
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PREP prolyl endopeptidase
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRKD1 protein kinase D1
PRRT2 proline-rich transmembrane protein 2
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
PTMA prothymosin, alpha
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RACK1 receptor for activated C kinase 1
RANGAP1 Ran GTPase activating protein 1
REN renin
RNASEH2C ribonuclease H2, subunit C
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RUNX1 runt-related transcription factor 1
SCLY selenocysteine lyase
SELE selectin E
SGCE sarcoglycan, epsilon
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5
SMAD3 SMAD family member 3
SPHK1 sphingosine kinase 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SST somatostatin
SSTR5 somatostatin receptor 5
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
STX1B syntaxin 1B
TAL1 T-cell acute lymphocytic leukemia 1
TGFA transforming growth factor, alpha
TNF tumor necrosis factor
TPO thyroid peroxidase
TRAF3 TNF receptor-associated factor 3
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VEGFA vascular endothelial growth factor A
XBP1 X-box binding protein 1
YAP1 Yes-associated protein 1