Long qt syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Long QT Syndrome C0023976 AKAP9 Causal Pathogenic evidence from ClinVar - ClinVar
ANK2 Causal Pathogenic evidence from ClinVar - ClinVar
CACNA1C Causal Pathogenic evidence from ClinVar 15454078, 15863612, 18250309, 19074970, 21685391, 21910241, 23578275, 23580742, 23631430, 23677916, 23690510, 23979604, 24773605, 25691416, 26227324, 26253506, 26822303 ClinVar
CAV3 Causal Pathogenic evidence from ClinVar 10746614, 11431690, 11756609, 11805270, 12666119, 12807393, 12939441, 14633633, 15099591, 15318349, 15580566, 15668980, 18583131, 18930476, 19380584, 20472890, 21404291, 22581547, 27772553 ClinVar
DSP Causal Pathogenic evidence from ClinVar - ClinVar
KCNE1 Causal Pathogenic evidence from ClinVar 9354783, 9354802, 9445165, 10400998, 10428953, 10807545, 11874988, 12566567, 14510655, 14661677, 14760488, 15051636, 16818210, 18329740, 19695459, 19716085, 24400172, 24499369, 24561134, 24606995 ClinVar
KCNH2 Causal Pathogenic evidence from ClinVar 7889573, 8635257, 8700910, 9024139, 9452080, 9544837, 9600240, 9693036, 9694858, 9721698, 9927399, 10086971, 10187793, 10220144, 10226095, 10560244, 10690305, 10841244, 10862094, 10973849, 10996323, 11009462, 11170080, 11222472, 11278781, 11468227, 11524404, 11668638, 11741928, 11854117, 12062363, 12070109, 12407082, 12566525, 12621127, 12775586, 12808265, 12877697, 14510655, 14661677, 14714110, 14720170, 14998624, 15043509, 15090700, 15176425, 15213294, 15364333, 15475579, 15840476, 16265869, 16414944, 16432067, 16818214, 16831322, 16922724, 17088455, 17171344, 17467628, 17905336, 18329740, 18386051, 18441445, 18752142, 18808722, 18848812, 19038855, 19057127, 19070294, 19324319, 19490267, 19583963, 19695459, 19716085, 19731233, 19841300, 19843919, 19862833, 19926013, 19996378, 20181576, 20211602, 20513597, 20850565, 20851114, 20876384, 20960620, 20975234, 21063070, 21109023, 21185501, 21216356, 21240260, 21244686, 21295269, 21308345, 21367833, 21419236, 21440677, 21536673, 21650221, 21703926, 21960720, 22396 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar 1467812, 8528244, 9024139, 9164812, 9312006, 9323054, 9386136, 9654228, 9693036, 9702906, 9799083, 9927399, 10024302, 10086971, 10376919, 10409658, 10482963, 10483966, 10560595, 10704188, 10728423, 10868744, 10973849, 11021476, 11087258, 11140949, 11162126, 11216980, 11530100, 11668638, 12051962, 12402336, 12522251, 12702160, 12820704, 14510655, 14510661, 14678125, 14998624, 15028050, 15051636, 15176425, 15234419, 15466642, 15746441, 15840476, 15935335, 16109388, 16246960, 16414944, 16556865, 16556866, 16627448, 16818214, 16922724, 16981927, 17224687, 17227916, 17467628, 17470695, 17905336, 17984373, 18329740, 18400097, 18580685, 18599533, 18713323, 18752142, 19160088, 19490272, 19590188, 19716085, 19808498, 19825999, 19841300, 19862833, 19934648, 19959132, 20044973, 20138589, 20348026, 20487114, 20513597, 20659946, 20660394, 20662986, 20850564, 21118729, 21185501, 21350584, 21451124, 21576493, 21810471, 21854832, 22095730, 22199116, 22429796, 22456477, 22539601, 22629021, 22708720, 22727609, 22910039, 229494 ClinVar
RYR2 Causal Pathogenic evidence from ClinVar 21126784 ClinVar
SCN4B Causal Pathogenic evidence from ClinVar 17592081 ClinVar
SCN5A Causal Pathogenic evidence from ClinVar 10627139, 10973849, 12208804, 12796143, 14510655, 16301357, 17081365, 17110414, 19140927, 19716085, 20513597, 24317018, 28069705 ClinVar
TECRL Causal Pathogenic evidence from ClinVar - ClinVar
CYP1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26988683 -
KCNE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10219239, 10984545, 14510655 -
KCNE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19306396 -
KCNQ1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10024302, 16981927, 19825999, 23098067, 23631430, 25187895 -
KCNQ1OT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9323054, 17905336, 19862833, 23631430, 25525159, 26318259 -
MYBPC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19931775 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21097842 -
SLC2A5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SNTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SSUH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10746614, 11431690, 11756609, 11805270, 12807393, 12939441, 14633633, 15318349, 15580566, 18583131, 18930476, 19380584, 20472890, 21404291 -
Long Qt Syndrome 11 C2678483 AKAP9 Causal Pathogenic evidence from ClinVar 11799244, 16301704, 18093912, 25087618 ClinVar
Long Qt Syndrome 4 C1833154 ANK2 Causal Pathogenic evidence from ClinVar - ClinVar
LONG QT SYNDROME 14 C4015671 CALM1 Causal Pathogenic evidence from ClinVar 16301704, 19121813, 23040497, 23388215, 24076290, 24563457, 24816216, 25557436, 26164367, 26309258, 26969752, 27165696 ClinVar
Long QT Syndrome 1 C4551647 CALM2 Causal Pathogenic evidence from ClinVar - ClinVar
DSP Causal Pathogenic evidence from ClinVar 19095136, 19279339, 21606390, 21606396, 25163546, 25225338, 25820315, 30382575 ClinVar
KCNH2 Causal Pathogenic evidence from ClinVar 19716085, 26669661, 27920829 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar 8528244, 8818942, 8872472, 9024139, 9272155, 9302275, 9312006, 9323054, 9386136, 9482580, 9570196, 9641694, 9693036, 9702906, 9799083, 9927399, 10024302, 10220144, 10220146, 10367071, 10409658, 10482963, 10728423, 10973849, 11216980, 11799244, 12051962, 12205790, 12442276, 14678125, 14998624, 15004216, 15176425, 15840476, 16414944, 16922724, 18165683, 18400097, 19540844, 19716085, 19808498, 19843919, 20850564, 21241800, 22613981, 22949429, 24184248, 24269949, 24713462, 25037568, 25139741, 25705178, 29033053, 29097701, 29697308 ClinVar
KCNQ1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LONG QT SYNDROME 15 C4015695 CALM2 Causal Pathogenic evidence from ClinVar 23388215, 24917665, 26164367, 26969752, 27165696, 27516456 ClinVar
LONG QT SYNDROME 9 (disorder) C2678485 CAV3 Causal Pathogenic evidence from ClinVar 17060380, 17275750 ClinVar
SSUH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LONG QT SYNDROME 5 C1867904 KCNE1 Causal Pathogenic evidence from ClinVar 9354783, 9354802, 9445165, 9790991, 10400998, 10973849, 11692163, 11874988, 12566567, 16414944, 19716085, 25037568, 26168993 ClinVar
Long Qt Syndrome 2 C3150943 KCNH2 Causal Pathogenic evidence from ClinVar 7889573, 8635257, 8877771, 8914737, 9024139, 9452080, 9544837, 9600240, 9693036, 10086971, 10187793, 10220144, 10483966, 10517660, 10560244, 10735633, 10753933, 10841244, 10862094, 10973849, 11170080, 12062363, 12354768, 12442276, 12621127, 15051636, 15176425, 15840476, 16361248, 16414944, 16754261, 16922724, 17060380, 17905336, 18441445, 18692916, 18752142, 19070294, 19160088, 19490267, 19716085, 19841300, 19843919, 22052944, 22314138, 22429796, 22949429, 24015048, 24057343, 26063740, 27041096, 27041150, 27816319, 27916661, 29085299 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar - ClinVar
ALG10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALG10B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LONG QT SYNDROME 13 C3150733 KCNJ5 Causal Pathogenic evidence from ClinVar 16301704, 19716085, 20560207 ClinVar
Long Qt Syndrome 10 C2678484 SCN4B Causal Pathogenic evidence from ClinVar 17592081, 23604097 ClinVar
LONG QT SYNDROME 3 C1859062 SCN5A Causal Pathogenic evidence from ClinVar 7651517, 7889574, 8541846, 9506831, 9686753, 10377081, 10508990, 10590249, 10627139, 10727653, 10911008, 10973849, 11304498, 11410597, 11710892, 11889015, 11997281, 12209021, 12454206, 12673799, 14523039, 15665061, 15840476, 15840483, 16325048, 16414944, 16922724, 17210841, 17646591, 18060054, 18451998, 18708744, 18848812, 18929331, 19716085, 19841300, 20539757, 21321465, 22378279, 22490985, 22685113, 24784157, 24871449, 26392562, 27041150 ClinVar
Long QT syndrome type 3 C2931401 SCN5A Causal Pathogenic evidence from ClinVar 17805561 ClinVar
Long Qt Syndrome 6 C3150953 KCNE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10219239, 11468227, 12185453, 15368194, 16301704, 16922724, 19716085 -
Long Qt Syndrome 12 C2751830 SNTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16301704, 18591664, 19684871 -