Long QT Syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (Human Disease Ontology, DOID_2843)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D008133
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Genes

276 genes/proteins associated with the disease Long QT Syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 2.88009
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 2.88009
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 2.88009
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 2.88009
PTEN phosphatase and tensin homolog 2.88009
POMC proopiomelanocortin 2.88009
SCN5A sodium channel, voltage gated, type V alpha subunit 2.88009
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 2.50172
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 2.48442
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 2.39355
CASP3 caspase 3, apoptosis-related cysteine peptidase 2.39241
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 2.36659
TNF tumor necrosis factor 2.36438
IL6 interleukin 6 2.21696
CAT catalase 2.20452
MAPK3 mitogen-activated protein kinase 3 2.15195
NUPR1 nuclear protein, transcriptional regulator, 1 2.14036
DRD2 dopamine receptor D2 2.11389
MAPK1 mitogen-activated protein kinase 1 2.11246
PRL prolactin 2.07842
ASNS asparagine synthetase (glutamine-hydrolyzing) 2.07327
FOS FBJ murine osteosarcoma viral oncogene homolog 2.06185
INS insulin 2.04398
INHBE inhibin, beta E 2.03899
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 2.03859
ADRB1 adrenoceptor beta 1 2.03368
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 2.03025
C10ORF10 chromosome 10 open reading frame 10 2.02656
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2.01622
CXCL8 chemokine (C-X-C motif) ligand 8 2.00982
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 1.99894
BCL2 B-cell CLL/lymphoma 2 1.97508
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 1.97215
TAGLN transgelin 1.96891
BAX BCL2-associated X protein 1.96373
CRH corticotropin releasing hormone 1.96224
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 1.95903
WIPI1 WD repeat domain, phosphoinositide interacting 1 1.95465
BDNF brain-derived neurotrophic factor 1.95209
EGR1 early growth response 1 1.94077
REN renin 1.93521
GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 1.93429
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1.92626
NOS2 nitric oxide synthase 2, inducible 1.92343
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 1.91879
SLC22A1 solute carrier family 22 (organic cation transporter), member 1 1.91797
FNDC4 fibronectin type III domain containing 4 1.89248
NR0B2 nuclear receptor subfamily 0, group B, member 2 1.88671
SOD2 superoxide dismutase 2, mitochondrial 1.87925
NPPA natriuretic peptide A 1.87559
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 1.86739
IL1B interleukin 1, beta 1.8648
GSTP1 glutathione S-transferase pi 1 1.8601
CASP7 caspase 7, apoptosis-related cysteine peptidase 1.84994
FABP1 fatty acid binding protein 1, liver 1.84073
SOD1 superoxide dismutase 1, soluble 1.81793
ADRB2 adrenoceptor beta 2, surface 1.80077
CCL2 chemokine (C-C motif) ligand 2 1.79694
HRH1 histamine receptor H1 1.78378
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.77179
CREB1 cAMP responsive element binding protein 1 1.7716
HPN hepsin 1.77121
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.76539
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.76072
EGFR epidermal growth factor receptor 1.71708
IL4 interleukin 4 1.71482
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 1.71029
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 1.70782
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 1.68549
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 1.68443
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.67526
TGFB1 transforming growth factor, beta 1 1.67311
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.67116
SLC22A3 solute carrier family 22 (organic cation transporter), member 3 1.66641
MAOA monoamine oxidase A 1.6621
TP53 tumor protein p53 1.65974
BCL2L1 BCL2-like 1 1.6464
AP1S1 adaptor-related protein complex 1, sigma 1 subunit 1.63451
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 1.63384
EDN1 endothelin 1 1.63116
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.63072
MAPK8 mitogen-activated protein kinase 8 1.62983
VEGFA vascular endothelial growth factor A 1.6278
JUN jun proto-oncogene 1.62691
IGF1 insulin-like growth factor 1 (somatomedin C) 1.62083
ICAM1 intercellular adhesion molecule 1 1.62013
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 1.6146
GSK3B glycogen synthase kinase 3 beta 1.61271
DRD1 dopamine receptor D1 1.58208
IL1A interleukin 1, alpha 1.57618
S100A9 S100 calcium binding protein A9 1.57162
IL10 interleukin 10 1.56947
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.56899
VCAM1 vascular cell adhesion molecule 1 1.55133
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.53724
RYR2 ryanodine receptor 2 (cardiac) 1.53579
NPPB natriuretic peptide B 1.52413
IFNG interferon, gamma 1.50549
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.49941
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 1.49096
CASP9 caspase 9, apoptosis-related cysteine peptidase 1.48684
TH tyrosine hydroxylase 1.48402
CAMK2A calcium/calmodulin-dependent protein kinase II alpha 1.48145
F3 coagulation factor III (thromboplastin, tissue factor) 1.47813
SREBF2 sterol regulatory element binding transcription factor 2 1.47478
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 1.45803
G6PD glucose-6-phosphate dehydrogenase 1.44845
MMP9 matrix metallopeptidase 9 1.44681
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.44436
CREM cAMP responsive element modulator 1.44166
FAS Fas cell surface death receptor 1.43537
PHYH phytanoyl-CoA 2-hydroxylase 1.4351
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 1.4351
MAPK14 mitogen-activated protein kinase 14 1.42994
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1.42535
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.41748
NPY neuropeptide Y 1.40705
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.39869
TAC1 tachykinin, precursor 1 1.39813
GSTM1 glutathione S-transferase mu 1 1.38298
CES2 carboxylesterase 2 1.37619
SPP1 secreted phosphoprotein 1 1.3699
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.36706
HMOX1 heme oxygenase 1 1.36504
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1.35821
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 1.34869
SREBF1 sterol regulatory element binding transcription factor 1 1.33791
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.33375
RBL2 retinoblastoma-like 2 1.33022
COL1A1 collagen, type I, alpha 1 1.32162
CCND3 cyclin D3 1.31897
OPRM1 opioid receptor, mu 1 1.30666
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 1.30177
ALB albumin 1.29905
CYP3A cytochrome P450, family 3, subfamily A 1.29905
GNAS GNAS complex locus 1.29812
FOSB FBJ murine osteosarcoma viral oncogene homolog B 1.29812
NOS3 nitric oxide synthase 3 (endothelial cell) 1.29533
MMP2 matrix metallopeptidase 2 1.29317
ADRB3 adrenoceptor beta 3 1.29164
TEX261 testis expressed 261 1.2861
PPARG peroxisome proliferator-activated receptor gamma 1.28395
EGR2 early growth response 2 1.28333
ACHE acetylcholinesterase (Yt blood group) 1.28272
CCL3 chemokine (C-C motif) ligand 3 1.28241
BIRC5 baculoviral IAP repeat containing 5 1.27502
H2AFX H2A histone family, member X 1.26856
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5 1.26083
GJA1 gap junction protein, alpha 1, 43kDa 1.25929
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme 1.25776
CLU clusterin 1.25588
HOMER1 homer scaffolding protein 1 1.25338
SQSTM1 sequestosome 1 1.25152
S100A8 S100 calcium binding protein A8 1.25059
ERP29 endoplasmic reticulum protein 29 1.24905
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 1.24812
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.24591
EIF4B eukaryotic translation initiation factor 4B 1.24244
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 1.23775
DDIT3 DNA-damage-inducible transcript 3 1.23616
GFAP glial fibrillary acidic protein 1.23456
SCD stearoyl-CoA desaturase (delta-9-desaturase) 1.23265
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1.23074
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 1.23074
FOXO1 forkhead box O1 1.22404
DRD3 dopamine receptor D3 1.2208
IRS1 insulin receptor substrate 1 1.22016
CDK4 cyclin-dependent kinase 4 1.22016
CCND1 cyclin D1 1.21823
MSMO1 methylsterol monooxygenase 1 1.21173
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.21011
UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 1.20848
CDK5 cyclin-dependent kinase 5 1.20816
APP amyloid beta (A4) precursor protein 1.20816
LDLR low density lipoprotein receptor 1.2059
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 1.20295
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1.20163
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 1.19999
CXCL2 chemokine (C-X-C motif) ligand 2 1.19966
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.19868
CTSS cathepsin S 1.19574
TIMP1 TIMP metallopeptidase inhibitor 1 1.19542
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.19279
MMP13 matrix metallopeptidase 13 1.18652
IL2 interleukin 2 1.18193
GRIK2 glutamate receptor, ionotropic, kainate 2 1.18193
ARC activity-regulated cytoskeleton-associated protein 1.18093
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 1.18093
GCLM glutamate-cysteine ligase, modifier subunit 1.1786
CTSB cathepsin B 1.17497
VIM vimentin 1.15831
CASP2 caspase 2, apoptosis-related cysteine peptidase 1.15729
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3 1.15391
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 1.14919
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 1.14919
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 1.1485
CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 1.14713
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 1.14713
RGS2 regulator of G-protein signaling 2 1.14644
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 1.14575
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 1.14404
PRKCE protein kinase C, epsilon 1.1437
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b 1.14234
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase 1.14234
STMN1 stathmin 1 1.14132
PENK proenkephalin 1.14132
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 1.13862
PRKCD protein kinase C, delta 1.13793
MYH7 myosin, heavy chain 7, cardiac muscle, beta 1.13552
PDE4A phosphodiesterase 4A, cAMP-specific 1.13415
STAR steroidogenic acute regulatory protein 1.13347
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 1.13075
PARP1 poly (ADP-ribose) polymerase 1 1.12771
AADAT aminoadipate aminotransferase 1.12771
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2 1.12151
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 1.1198
BCL2L11 BCL2-like 11 (apoptosis facilitator) 1.11843
CFLAR CASP8 and FADD-like apoptosis regulator 1.1136
POR P450 (cytochrome) oxidoreductase 1.11325
LEP leptin 1.11186
KCNK18 potassium channel, two pore domain subfamily K, member 18 1.11116
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.10769
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 1.1014
CALCA calcitonin-related polypeptide alpha 1.09786
GPX3 glutathione peroxidase 3 1.09646
TGFB2 transforming growth factor, beta 2 1.09436
CKM creatine kinase, muscle 1.09332
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 1.0894
DUSP8 dual specificity phosphatase 8 1.0869
NR1I3 nuclear receptor subfamily 1, group I, member 3 1.08513
GATA4 GATA binding protein 4 1.07768
MPO myeloperoxidase 1.07732
DCAF8 DDB1 and CUL4 associated factor 8 1.07625
ENO1 enolase 1, (alpha) 1.0734
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 1.07093
UBC ubiquitin C 1.07022
FN1 fibronectin 1 1.06952
EIF2A eukaryotic translation initiation factor 2A, 65kDa 1.06661
FOXO3 forkhead box O3 1.06333
SQLE squalene epoxidase 1.06044
NBN nibrin 1.06044
AVP arginine vasopressin 1.06044
CMTM6 CKLF-like MARVEL transmembrane domain containing 6 1.06008
GRIA1 glutamate receptor, ionotropic, AMPA 1 1.05936
ATM ATM serine/threonine kinase 1.05793
CPT1A carnitine palmitoyltransferase 1A (liver) 1.05793
ADORA1 adenosine A1 receptor 1.05757
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.05648
FGF2 fibroblast growth factor 2 (basic) 1.05498
LOX lysyl oxidase 1.05498
IGF1R insulin-like growth factor 1 receptor 1.04904
RB1 retinoblastoma 1 1.04794
CAMK4 calcium/calmodulin-dependent protein kinase IV 1.04538
ADRA2A adrenoceptor alpha 2A 1.04501
H2AFY H2A histone family, member Y 1.04465
FOSL2 FOS-like antigen 2 1.04126
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 1.04126
FOSL1 FOS-like antigen 1 1.04051
CALR calreticulin 1.03604
CYCS cytochrome c, somatic 1.03604
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 1.0353
DUSP1 dual specificity phosphatase 1 1.03159
MAP1B microtubule-associated protein 1B 1.03084
PCNA proliferating cell nuclear antigen 1.02708
ARRB2 arrestin, beta 2 1.02596
ORM2 orosomucoid 2 1.02596
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 1.02077
GSR glutathione reductase 1.02003
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 1.01966
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.01852
LPL lipoprotein lipase 1.01814
GRIA2 glutamate receptor, ionotropic, AMPA 2 1.01701
ADRBK1 adrenergic, beta, receptor kinase 1 1.01625
GSTA1 glutathione S-transferase alpha 1 1.01625
HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 1.01625
CYBB cytochrome b-245, beta polypeptide 1.01286