Disease Term Disease ID Gene Symbol Classification References Source
CARDIAC VALVULAR DEFECT, DEVELOPMENTAL PLD1 Causal ClinVar GWAS catalog
CARDIAC VALVULAR DYSPLASIA 1 MTHFD1 Unknown Disgenet
PLD1 Unknown Disgenet HPO
CARDIAC VALVULAR DYSPLASIA 2 ADAMTS19 Causal ClinVar Disgenet GWAS catalog HPO
CARDIAC VALVULAR DYSPLASIA, X-LINKED ATM Causal Disgenet
FLNA Causal CTD ClinVar Disgenet GWAS catalog HPO
CARDIAC-VALVULAR EHLERS-DANLOS SYNDROME COL1A2 Unknown Orphanet