Focal cortical dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Focal cortical dysplasia C2938983 COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NPRL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NUP133 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FOCAL CORTICAL DYSPLASIA OF TAYLOR C1846385 MTOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25799227, 25878179, 26018084, 27159400, 27830187 -
TSC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12112044, 28215400 -
TSC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19175396, 28215400, 29056246 -
Focal Cortical Dysplasia of Taylor, Type IIa C1846386 MTOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TSC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12112044, 28215400 -
TSC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28215400 -
Focal Cortical Dysplasia of Taylor, Type IIb C1846389 MTOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TSC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12112044, 28215400 -
TSC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28215400 -
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC C4479673 MTOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Focal cortical dysplasia type IIa C4478700 NPRL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -