Schizencephaly

Disease Term Disease ID Gene Symbol Classification References Source
Acquired schizencephaly 485275 EMX2 Causal Pathogenic evidence from ClinVar - ClinVar
SIX3 Causal Pathogenic evidence from ClinVar - ClinVar
SHH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial schizencephaly C2931870, 481986 EMX2 Causal Pathogenic evidence from ClinVar - ClinVar
SIX3 Causal Pathogenic evidence from ClinVar - ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26576802 -
SHH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Schizencephaly C0266484 EMX2 Causal Pathogenic evidence from ClinVar 9153481, 9359037 ClinVar
SIX3 Causal Pathogenic evidence from ClinVar 18791198, 20157829 ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23225343, 30315939 -
EPG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SHH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12503095 -
TUBB2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WDR62 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WNT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -