Focal cortical dysplasia
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 |