Disease Term Disease ID Gene Symbol Classification References Source
TETRALOGY OF FALLOT FLNC Causal Disgenet
GATA6 Causal CTD ClinVar Disgenet GenCC HPO Orphanet
JAG1 Causal CTD ClinVar Disgenet GWAS catalog HPO Orphanet
KDR Causal CTD Disgenet Orphanet
NIPBL Causal Disgenet
NKX2-5 Causal CTD ClinVar Disgenet GWAS catalog HPO Orphanet
NOTCH1 Causal CTD Disgenet
ROBO1 Causal Disgenet
TBX1 Causal CTD ClinVar Disgenet HPO Orphanet
ABL1 Unknown CTD
ACTC1 Unknown CTD
ACTN2 Unknown Disgenet
ACVR2B Unknown CTD
ADNP Unknown CTD
ALDH1A2 Unknown CTD
ANKRD1 Unknown CTD
ANKRD11 Unknown CTD
BRAF Unknown CTD
CACNA1C Unknown CTD
CERS1 Unknown Disgenet
CFAP45 Unknown CTD
CFAP53 Unknown CTD
CFC1 Unknown CTD
CFC1B Unknown Disgenet
CHD4 Unknown CTD
CHD7 Unknown CTD
CITED2 Unknown CTD Orphanet
COL3A1 Unknown CTD
COX1 Unknown Disgenet
COX2 Unknown Disgenet
COX3 Unknown Disgenet
CRELD1 Unknown CTD Disgenet
CRIPTO Unknown CTD
CTNND1 Unknown CTD
DCHS1 Unknown CTD
DYRK1A Unknown CTD
DZIP1 Unknown CTD
EHMT1 Unknown CTD
ELN Unknown CTD
EPHB4 Unknown Disgenet
FBN1 Unknown CTD
FBN2 Unknown CTD
FLNA Unknown CTD
FLT4 Unknown CTD Disgenet GWAS catalog Orphanet
FOXC1 Unknown CTD Disgenet
FOXC2 Unknown CTD Disgenet
FOXH1 Unknown CTD Disgenet
FOXJ1 Unknown CTD
FOXL1 Unknown CTD
GATA4 Unknown CTD ClinVar Disgenet GWAS catalog HPO Orphanet