Periventricular nodular heterotopia

Disease Term Disease ID Gene Symbol Classification References Source
Periventricular nodular heterotopia 98892 ARF1 Causal Pathogenic evidence from ClinVar - ClinVar
ERMARD Causal Pathogenic evidence from ClinVar - ClinVar
FLNA Causal Pathogenic evidence from ClinVar - ClinVar
MAP1B Causal Pathogenic evidence from ClinVar - ClinVar
NEDD4L Causal Pathogenic evidence from ClinVar - ClinVar
ARFGEF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMTC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Periventricular Nodular Heterotopia C1868720 ARF1 Causal Pathogenic evidence from ClinVar 28868155 ClinVar
ERMARD Causal Pathogenic evidence from ClinVar 24056535 ClinVar
FLNA Causal Pathogenic evidence from ClinVar 9883725, 11914408 ClinVar
MAP1B Causal Pathogenic evidence from ClinVar 29738522 ClinVar
NEDD4L Causal Pathogenic evidence from ClinVar 27694961 ClinVar
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARFGEF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14647276, 25160555 -
C2CD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CSF1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DCHS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DHCR7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FAT4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FMR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KAT6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAN1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RTTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC25A24 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMTC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28973161 -
ZSWIM6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PERIVENTRICULAR NODULAR HETEROTOPIA 8 C4748602 ARF1 Causal Pathogenic evidence from ClinVar 28868155 ClinVar
PERIVENTRICULAR NODULAR HETEROTOPIA 6 C3809872 ERMARD Causal Pathogenic evidence from ClinVar 24056535 ClinVar
PERIVENTRICULAR NODULAR HETEROTOPIA 7 C4310669 NEDD4L Causal Pathogenic evidence from ClinVar 23934111, 27694961 ClinVar