Spasms x-linked

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