Atrioventricular septal defect

Disease Term Disease ID Gene Symbol Classification References Source
ATRIOVENTRICULAR SEPTAL DEFECT
C1389018MESH:C562831
CHD7 Unknown — Disgenet
ELN Unknown — Disgenet
FOXP1 Unknown — Disgenet
GATA4 Unknown — CTD
GATA6 Unknown — CTD
NR1D2 Unknown — Disgenet
SMARCAL1 Unknown — Disgenet
TBX5 Unknown — Disgenet
ATRIOVENTRICULAR SEPTAL DEFECT 4
614430C3280781MONDO:0013747
GATA4 Causal — ClinVar Disgenet HPO
ATRIOVENTRICULAR SEPTAL DEFECT 5
614474C3280939MONDO:0013769
GATA6 Causal
20581743
ClinVar Disgenet GWAS catalog HPO
ATRIOVENTRICULAR SEPTAL DEFECT AND COMMON ATRIOVENTRICULAR JUNCTION
C0344783
GJA1 Causal — Disgenet
ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME
C1853509MESH:C565249
CRELD1 Unknown — CTD Disgenet
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
606217MONDO:0011650
CRELD1 Causal
12632326 21080147 22740159
ClinVar GWAS catalog HPO
COMPLETE ATRIOVENTRICULAR CANAL DEFECT WITH VENTRICULAR HYPOPLASIA
C5680290
CRELD1 Unknown — Disgenet
GATA4 Unknown — Disgenet
GATA6 Unknown — Disgenet
NR2F2 Unknown — Disgenet
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITH TETRALOGY OF FALLOT
C3640086
CRELD1 Unknown — Disgenet
GATA4 Unknown — Disgenet
NR2F2 Unknown — Disgenet
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITH VENTRICULAR HYPOPLASIA
99067
CRELD1 Unknown
12632326 15096951
Orphanet
GATA4 Unknown
17643447 18672102
Orphanet
GATA6 Unknown
20581743
Orphanet
NR2F2 Unknown
24702954
Orphanet
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITHOUT VENTRICULAR HYPOPLASIA
576227
MEF2C Unknown
35719119
Orphanet
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT-TETRALOGY OF FALLOT
99068
CRELD1 Unknown
12632326 15096951
Orphanet
GATA4 Unknown
17643447 18672102
Orphanet
NR2F2 Unknown
24702954
Orphanet