Atrioventricular septal defect

Disease Term Disease ID Gene Symbol Classification References Source
Atrioventricular Septal Defect C1389018 GATA4 Causal Pathogenic evidence from ClinVar - ClinVar
GATA6 Causal Pathogenic evidence from ClinVar - ClinVar
GJA1 Causal Pathogenic evidence from ClinVar - ClinVar
NKX2-5 Causal Pathogenic evidence from ClinVar - ClinVar
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDC45 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GATA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GDF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HDAC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYLS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
INTU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NKX2-6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTPN11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PUF60 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMARCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMARCAL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TBX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TBX5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRIO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WDPCP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATRIOVENTRICULAR SEPTAL DEFECT 4 C3280781 GATA4 Causal Pathogenic evidence from ClinVar 12845333, 15235040, 17643447 ClinVar
ATRIOVENTRICULAR SEPTAL DEFECT 5 C3280939 GATA6 Causal Pathogenic evidence from ClinVar 20581743, 20631719 ClinVar
ATRIOVENTRICULAR SEPTAL DEFECT 3 C3275750 GJA1 Causal Pathogenic evidence from ClinVar 11470490 ClinVar