Brugada syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Brugada syndrome 130 CACNA1C Causal Pathogenic evidence from ClinVar - ClinVar
CACNB2 Causal Pathogenic evidence from ClinVar - ClinVar
HCN4 Causal Pathogenic evidence from ClinVar - ClinVar
SCN10A Causal Pathogenic evidence from ClinVar - ClinVar
SCN1B Causal Pathogenic evidence from ClinVar - ClinVar
SCN5A Causal Pathogenic evidence from ClinVar - ClinVar
ABCC9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AKAP9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CACNA2D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GPD1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCND3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNE5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNJ8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Brugada Syndrome (disorder) C1142166 CACNA1C Causal Pathogenic evidence from ClinVar 8392192, 17224476, 20817017, 23575362, 24321233, 28401855, 29697308 ClinVar
CACNB2 Causal Pathogenic evidence from ClinVar 10623591, 16301704, 17224476, 19358333, 20817017, 22090166, 22840528 ClinVar
HCN4 Causal Pathogenic evidence from ClinVar 15123648, 19165230, 22840528, 27553229 ClinVar
SCN10A Causal Pathogenic evidence from ClinVar 9839820, 22723299, 23872634, 24642470, 24998131, 25691538, 25842276, 27272739, 27806966 ClinVar
SCN1B Causal Pathogenic evidence from ClinVar 18464934, 22155597, 22155598, 25253298, 25772295, 26179811, 28217227 ClinVar
SCN5A Causal Pathogenic evidence from ClinVar 8541846, 8620612, 8917568, 9495298, 9506831, 9521325, 10377081, 10471492, 10532948, 10590249, 10618304, 10662748, 10690282, 10727653, 10772658, 10940383, 10961955, 10973849, 11029409, 11123251, 11410597, 11804990, 11823453, 11827685, 11901046, 12051963, 12106943, 12209021, 12522116, 12566525, 12639704, 12650885, 12687841, 12693506, 12877697, 14523039, 14753626, 14961552, 14990510, 15023552, 15057319, 15520322, 15621041, 15665061, 15671429, 15808832, 15840476, 15851228, 15863661, 15890323, 16039271, 16144991, 16239976, 16254012, 16325048, 16344400, 16379539, 16643399, 16945804, 17081365, 17088455, 17404158, 17561957, 17697823, 17698727, 17728436, 17805561, 17854786, 17897635, 17905336, 18048769, 18361072, 18378609, 18451998, 18452873, 18507554, 18551308, 18599870, 18929331, 19026623, 19140927, 19167409, 19251209, 19606473, 19716085, 19808440, 19841300, 19843921, 19862833, 19875396, 20031634, 20090423, 20129283, 20174578, 20395683, 20448214, 20513597, 21193062, 21273195, 21321465, 21350584, 21483645, 21596231 ClinVar
ABCC9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24439875 -
AKAP9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25016126 -
ANK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15579534, 17242276, 26230511, 27784853 -
CACNA2D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16301704, 17224476, 19429829, 20817017, 24309898, 25527503 -
CALM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27100291 -
GPD1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17967977, 18762705, 19666841 -
HEY2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23872634 -
KCND3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10200233, 21349352, 22284586, 22840528, 26016905 -
KCNE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15698834, 19122847, 19306396, 22987075 -
KCNE5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10493825, 21493962, 27484720, 29350269, 30289750 -
KCNH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11997281, 12612061, 15840476, 16043162, 18692916, 21536673, 22949429, 24400717, 25626866 -
KCNJ8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11984590, 19120683, 20558321, 22056721, 22840528, 24367007 -
Brugada Syndrome 3 C2678478 CACNA1C Causal Pathogenic evidence from ClinVar 17224476, 24728418, 26253506, 28371864, 29697308 ClinVar
Brugada Syndrome 1 C4551804 CACNB2 Causal Pathogenic evidence from ClinVar 10623591, 17224476, 19358333, 20817017, 22090166, 22840528 ClinVar
HCN4 Causal Pathogenic evidence from ClinVar 15123648, 19165230, 22840528, 27553229 ClinVar
SCN10A Causal Pathogenic evidence from ClinVar 9839820, 22723299, 23872634, 24642470, 24998131, 25691538, 25842276, 27272739, 27806966 ClinVar
SCN1B Causal Pathogenic evidence from ClinVar 18464934, 22155597, 22155598, 25253298, 25772295, 26179811, 28217227 ClinVar
SCN5A Causal Pathogenic evidence from ClinVar 7889574, 9521325, 10532948, 10618304, 10662748, 10690282, 11410597, 11748104, 11807557, 11823453, 11901046, 12051963, 12106943, 12687841, 15023552, 15338453, 15520322, 15579534, 15808832, 15851320, 15863661, 16144991, 16239976, 16266370, 16325048, 16616735, 16945804, 17075016, 17081365, 17198989, 17728436, 17805561, 18252757, 18341814, 18451998, 18456723, 18507554, 18599870, 18616619, 19140927, 19251209, 19272188, 19875396, 20129283, 20174578, 20513597, 21273195, 22490985, 23085483, 23420830, 23872634, 24167619, 26111534, 26279430, 26776555, 29959160, 30232268 ClinVar
CACNA2D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19429829, 20817017, 24309898, 25527503 -
GPD1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17967977, 18762705, 19666841 -
HEY2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23872634 -
KCND3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10200233, 21349352, 22284586, 22840528, 26016905 -
KCNJ8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11984590, 19120683, 20558321, 22056721, 22840528, 24367007 -
Brugada Syndrome 4 C2678477 CACNB2 Causal Pathogenic evidence from ClinVar 16301704, 17224476, 27761167 ClinVar
Brugada Syndrome 8 C2751083 HCN4 Causal Pathogenic evidence from ClinVar 16301704, 17646576, 25145517, 25145518, 26206080, 27761167 ClinVar
Brunner Syndrome C0796275 MAOA Causal Pathogenic evidence from ClinVar 8211186, 24169519, 25807999, 27830117 ClinVar
Brugada Syndrome 5 C2748541 SCN1B Causal Pathogenic evidence from ClinVar 5421039, 9697698, 12011299, 16301704, 17020904, 18464934, 25426816, 27277800, 27761167, 28331474 ClinVar
Brugada Syndrome 2 C2673193 GPD1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16301704, 17967976, 17967977, 19666841, 19745168 -
BRUGADA SYNDROME 9 C4225340 KCND3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21349352, 22457051 -
Brugada Syndrome 6 C2751089 KCNE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16301704, 19306396, 22987075, 27761167 -