Lissencephaly

Disease Term Disease ID Gene Symbol Classification References Source
Lissencephaly C0266463 ACTG1 Causal Pathogenic evidence from ClinVar - ClinVar
MACF1 Causal Pathogenic evidence from ClinVar 16815997, 30471716 ClinVar
NDE1 Causal Pathogenic evidence from ClinVar - ClinVar
PAFAH1B1 Causal Pathogenic evidence from ClinVar - ClinVar
TMTC3 Causal Pathogenic evidence from ClinVar - ClinVar
TUBA1A Causal Pathogenic evidence from ClinVar - ClinVar
CDK5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRADD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CTNNA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30013181 -
CTU2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EXOSC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FTO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HIC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIAA1109 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LAMB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MPDZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NBN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX26 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PHGDH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PSAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC25A19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TUBA3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TUBB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
YWHAE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Classical Lissencephaly C0431375 DCX Causal Pathogenic evidence from ClinVar - ClinVar
PAFAH1B1 Causal Pathogenic evidence from ClinVar 9063735, 10441340, 11115846, 11163258, 11502906, 12885786, 14581661, 15007136, 15173193, 18285425, 19667223, 25140959, 26633545 ClinVar
MNT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15028671 -
Lissencephaly type 1 due to doublecortin gene mutation 2148 DCX Causal Pathogenic evidence from ClinVar - ClinVar
LISSENCEPHALY 4 C3151461 NDE1 Causal Pathogenic evidence from ClinVar 21529751, 21529752, 22526350 ClinVar
Lissencephaly due to LIS1 mutation 95232 PAFAH1B1 Causal Pathogenic evidence from ClinVar - ClinVar
LISSENCEPHALY 8 C4310646 TMTC3 Causal Pathogenic evidence from ClinVar 27773428 ClinVar
Lissencephaly 3 C1969029 TUBA1A Causal Pathogenic evidence from ClinVar 17584854, 18669490, 18728072, 18954413, 20466733, 22264709, 22948023, 24860126, 25818041, 26633545, 29706646 ClinVar
Lissencephaly due to TUBA1A mutation 171680 TUBA1A Causal Pathogenic evidence from ClinVar - ClinVar
Type III lissencephaly C4021030 CENPJ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LISSENCEPHALY 5 C3554657 DLD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LAMB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17525174, 23472759, 25925986 -