Disease Term Disease ID Gene Symbol References
Focal cortical dysplasia C2938983 COL4A1
NPRL2
NUP133
FOCAL CORTICAL DYSPLASIA OF TAYLOR C1846385 MTOR 25799227, 25878179, 26018084, 27830187, 27159400
TSC1 28215400, 12112044
TSC2 29056246, 19175396, 28215400
Focal Cortical Dysplasia of Taylor, Type IIa C1846386 MTOR
TSC1 12112044, 28215400
TSC2 28215400
Focal Cortical Dysplasia of Taylor, Type IIb C1846389 MTOR
TSC1 28215400, 12112044
TSC2 28215400
Focal cortical dysplasia type IIa C4478700 NPRL3
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC C4479673 MTOR