Long Qt Syndrome Gene Set

Dataset DisGeNET 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 https://www.disgenet.org/browser/0/1/0/C1833154
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Genes

109 genes associated with the disease Long Qt Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACSBG1 acyl-CoA synthetase bubblegum family member 1
ADRA1A adrenoceptor alpha 1A
ADRB1 adrenoceptor beta 1
AKAP9 A kinase (PRKA) anchor protein 9
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALG10B ALG10B, alpha-1,2-glucosyltransferase
ANK2 ankyrin 2, neuronal
AR androgen receptor
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CAVIN1 caveolae associated protein 1
CD59 CD59 molecule, complement regulatory protein
CNTN3 contactin 3 (plasmacytoma associated)
COL4A2 collagen, type IV, alpha 2
COL4A5 collagen, type IV, alpha 5
CRX cone-rod homeobox
CUZD1 CUB and zona pellucida-like domains 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DMBT1 deleted in malignant brain tumors 1
DSP desmoplakin
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EPHA3 EPH receptor A3
FLNC filamin C, gamma
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
FXN frataxin
GAST gastrin
GJA5 gap junction protein, alpha 5, 40kDa
GJB3 gap junction protein, beta 3, 31kDa
GOLGA2 golgin A2
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HFE hemochromatosis
HRAS Harvey rat sarcoma viral oncogene homolog
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA1A heat shock 70kDa protein 1A
HSPA1B heat shock 70kDa protein 1B
HSPA2 heat shock 70kDa protein 2
HSPA4 heat shock 70kDa protein 4
IER3IP1 immediate early response 3 interacting protein 1
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KCNK3 potassium channel, two pore domain subfamily K, member 3
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
LDLR low density lipoprotein receptor
LIN28A lin-28 homolog A (C. elegans)
LMNA lamin A/C
LYPD4 LY6/PLAUR domain containing 4
MINK1 misshapen-like kinase 1
MUC2 mucin 2, oligomeric mucus/gel-forming
MYBPC3 myosin binding protein C, cardiac
MYH7 myosin, heavy chain 7, cardiac muscle, beta
ND1
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
PELI1 pellino E3 ubiquitin protein ligase 1
PICALM phosphatidylinositol binding clathrin assembly protein
PMP22 peripheral myelin protein 22
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMC proopiomelanocortin
POU5F1 POU class 5 homeobox 1
PPARD peroxisome proliferator-activated receptor delta
PRDM6 PR domain containing 6
PRL prolactin
PTEN phosphatase and tensin homolog
RAB11B RAB11B, member RAS oncogene family
RNF207 ring finger protein 207
RPGR retinitis pigmentosa GTPase regulator
RYR2 ryanodine receptor 2 (cardiac)
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5
SLN sarcolipin
SNAP91 synaptosomal-associated protein, 91kDa
SNTA1 syntrophin, alpha 1
SQLE squalene epoxidase
SSUH2 ssu-2 homolog (C. elegans)
TAT tyrosine aminotransferase
TBX20 T-box 20
TDP2 tyrosyl-DNA phosphodiesterase 2
TECRL trans-2,3-enoyl-CoA reductase-like
TRDN triadin