Disease Term Disease ID Gene Symbol Classification References Source
Atrial Septal Defect 5 C2748552 ACTC1 Causal Pathogenic evidence from ClinVar 9563954, 10966831, 16611632, 17611253, 17947298, 19799913, 21622575, 22590617, 23283745, 24461919, 24736382, 26061005, 27532257, 30681346 ClinVar
Atrial septal defect, ostium secundum type 99103 ACTC1 Causal Pathogenic evidence from ClinVar - ClinVar
CITED2 Causal Pathogenic evidence from ClinVar - ClinVar
GATA4 Causal Pathogenic evidence from ClinVar - ClinVar
MYH6 Causal Pathogenic evidence from ClinVar - ClinVar
NKX2-5 Causal Pathogenic evidence from ClinVar - ClinVar
TBX20 Causal Pathogenic evidence from ClinVar - ClinVar
TLL1 Causal Pathogenic evidence from ClinVar - ClinVar
Atrial Septal Defects C0018817 ACTC1 Causal Pathogenic evidence from ClinVar - ClinVar
CITED2 Causal Pathogenic evidence from ClinVar - ClinVar
GATA4 Causal Pathogenic evidence from ClinVar - ClinVar
MYH6 Causal Pathogenic evidence from ClinVar 15735645 ClinVar
NKX2-5 Causal Pathogenic evidence from ClinVar - ClinVar
TBX5 Causal Pathogenic evidence from ClinVar - ClinVar
TLL1 Causal Pathogenic evidence from ClinVar - ClinVar
ABCC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28288113 -
ACTL6A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGGF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AMER1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARHGAP31 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARID1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARID1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARVCF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASXL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASXL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATIC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP6V1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP6V1E1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AUTS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GALT6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GLCT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BAZ1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BCOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BCR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BMP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BMPR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BRAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BRCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BRCA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATRIAL SEPTAL DEFECT 8 C3280790 CITED2 Causal Pathogenic evidence from ClinVar 24848765 ClinVar
Atrial septal defect, sinus venosus type 99105 CITED2 Causal Pathogenic evidence from ClinVar - ClinVar
Atrial septal defect 2 C1842778 GATA4 Causal Pathogenic evidence from ClinVar 12845333, 15810002, 17643447, 18055909, 20347099, 20659440, 27984724 ClinVar
Atrial Septal Defect 3 C3279790 MYH6 Causal Pathogenic evidence from ClinVar 15735645, 27532257, 28082330 ClinVar
Atrial Septal Defect 4 C1969657 TBX20 Causal Pathogenic evidence from ClinVar 17668378, 19762328 ClinVar
ATRIAL SEPTAL DEFECT 1 C1862389 TBX5 Causal Pathogenic evidence from ClinVar - ClinVar
TPM1 Causal Pathogenic evidence from ClinVar 28359939 ClinVar
Atrial Septal Defect 6 C2751315 TLL1 Causal Pathogenic evidence from ClinVar 18830233 ClinVar
Atrial septal defect, ostium primum type 99106 TLL1 Causal Pathogenic evidence from ClinVar - ClinVar