Atrial septal defect

Disease Term Disease ID Gene Symbol Classification References Source
ATRIAL HEART SEPTAL DEFECT
EFO_1000825
HSPBAP1 Unknown
39024449
GWAS catalog
PARP14 Unknown
39024449
GWAS catalog
ROBO1 Unknown
39024449
GWAS catalog
ATRIAL SEPTAL DEFECT 1
C1862389
BMP2 Causal — Disgenet
TBX5 Causal — Disgenet
TGFB2 Causal — Disgenet
TPM1 Causal — Disgenet
FOXP1 Unknown — Disgenet
ATRIAL SEPTAL DEFECT 2
607941C1842778MESH:C538263MONDO:0011938
GATA4 Causal
18055909 17643447 20347099 12845333 20659440 15810002
CTD ClinVar Disgenet GWAS catalog HPO
ATRIAL SEPTAL DEFECT 3
614089C3279790MESH:C563540MONDO:0013567
MYH6 Causal
29505555 31638415 29536580 29969989 15735645 20656787 34481090
CTD ClinVar Disgenet GWAS catalog HPO
ATRIAL SEPTAL DEFECT 4
611363C1969657MESH:C566963MONDO:0012654
TBX20 Causal
19762328 17668378
CTD ClinVar Disgenet GenCC HPO
ATRIAL SEPTAL DEFECT 5
612794C2748552MESH:C567561MONDO:0013011
ACTC1 Causal
17947298 24461919 27139165
CTD ClinVar Disgenet HPO
ATRIAL SEPTAL DEFECT 6
613087C2751315MESH:C567764MONDO:0013123
TLL1 Causal
18830233 27418595 30538173 31570783
CTD ClinVar Disgenet GWAS catalog HPO
ATRIAL SEPTAL DEFECT 7
MONDO:0007173
NKX2-5 Causal — ClinVar GenCC
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
108900C3276096OMIM:108900
NKX2-5 Unknown — CTD Disgenet HPO
ATRIAL SEPTAL DEFECT 8
614433C3280790MONDO:0013750OMIM:614433
CITED2 Causal — CTD ClinVar Disgenet GenCC HPO
ATRIAL SEPTAL DEFECT 9
614475C3280943MONDO:0013770OMIM:614475
GATA6 Unknown
20631719
CTD ClinVar Disgenet GenCC HPO
ATRIAL SEPTAL DEFECT SINUS VENOSUS
C0344730
CITED2 Unknown — Disgenet
ATRIAL SEPTAL DEFECT, ATRIOVENTRICULAR CONDUCTION DEFECT SYNDROME
C4510872
NKX2-5 Unknown — Disgenet
ATRIAL SEPTAL DEFECT, OSTIUM PRIMUM TYPE
99106
TLL1 Unknown
18830233
Orphanet
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE
99103
ACTC1 Unknown
17947298
Orphanet
CITED2 Unknown
16287139
Orphanet
GATA4 Unknown
12845333 15810002 20347099
Orphanet
GATA6 Unknown
20631719
Orphanet
MYH6 Unknown
15735645
Orphanet
NKX2-5 Unknown
15810002 21285290
Orphanet
TBX20 Unknown
19762328
Orphanet
TLL1 Unknown
18830233
Orphanet
ATRIAL SEPTAL DEFECT, SINUS VENOSUS TYPE
99105
CITED2 Unknown
16287139
Orphanet
ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME
1479
NKX2-5 Unknown
18375255 19049681
Orphanet
ATRIAL SEPTAL DEFECTS
C0018817
ABCC8 Unknown — Disgenet
ACTC1 Unknown — Disgenet
ACTL6A Unknown — Disgenet
BMP4 Unknown — Disgenet
CHD7 Unknown — Disgenet
CITED2 Unknown — Disgenet
CUL9 Unknown — Disgenet
CYFIP1 Unknown — Disgenet
DIPK1A Unknown — Disgenet
DMD Unknown — Disgenet
GATA4 Unknown — Disgenet
GATA6 Unknown — Disgenet
HDAC8 Unknown — Disgenet
HUWE1 Unknown — Disgenet
ISL1 Unknown — Disgenet
MN1 Unknown — Disgenet
MYH6 Unknown — Disgenet
MYLK Unknown — Disgenet
NKX2-5 Unknown — Disgenet
PQBP1 Unknown — Disgenet