Disease Term Disease ID Gene Symbol References
X-linked infantile spasms C4552072 CAMK2G 28388656
DNM1 27066543, 25779878, 26611353, 26795593, 8101525, 26648591, 20700442, 23934111, 26125563, 25262651
GNAO1 25966631, 28503590, 28202424, 27072799, 9050846, 23993195, 28747448, 28628939, 27476654, 29390993, 26060304, 28357411, 26485252, 25262651
KCNQ2 26544041, 16039833, 25880994, 26993267, 24371303, 24318194, 27535030, 26446091, 28133863, 24375629, 28283543, 24107868, 22926866, 22275249, 28867141, 27602407, 22455920, 25982755, 11572947, 29190809, 23440208, 28139826, 16916607, 27779742, 25740509, 23621294, 14534157, 23708187, 22169383, 23692823
SCN1A 12754708, 18076640, 24502503, 30779207, 17054684, 23762420, 17347258, 25243660, 18930999, 20562086, 14738421, 23821540, 25348405, 27781031, 18804930, 23195492, 22848613, 25818041, 21868258, 11254444, 11940708, 28794249, 28012175, 27231140, 12576172, 22780858, 16075041, 16541393, 23895530, 25401298, 23934111, 27465585, 20550552, 23708187, 20522430, 28079314, 26096185, 12083760, 21248271
SCN8A
SPTAN1
CDKL5
STXBP1 26544041, 23934111, 25714420, 26865513, 24781210, 21762454, 26918652, 25693842, 23708187, 27779742, 26514728, 20887364
PIGQ 31148362
CACNA2D2
ARHGEF15
NECAP1
SLC25A22
UBA5 28965491, 27545681, 27545674, 27926783
SIK1 25839329, 27966542
ARX 25951140, 29655203, 23583054, 17664401, 29924869, 29056246, 18462864, 29190809, 19439424
HCN1 24747641
NPHP3-ACAD11 27545681, 27545674, 27926783, 28965491
SCN1A-AS1 18804930, 20562086, 16541393, 18930999, 17347258, 23762420, 17054684, 20550552, 28079314, 14738421, 27781031, 23934111, 16075041, 11940708, 18076640, 20522430, 22848613, 25348405, 28012175, 26096185, 22780858, 12083760, 21248271, 27465585, 25243660, 25818041, 12754708, 11254444, 24502503, 23895530, 23708187, 21868258, 12576172, 23821540, 23195492, 25401298, 27231140