Disease Term Disease ID Gene Symbol Classification References Source
Congenital vertebral-cardiac-renal anomalies syndrome 521438 HAAO Causal Pathogenic evidence from ClinVar - ClinVar
KYNU Causal Pathogenic evidence from ClinVar - ClinVar
NADSYN1 Causal Pathogenic evidence from ClinVar - ClinVar
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 C4540004 HAAO Causal Pathogenic evidence from ClinVar 28792876 ClinVar
KYNU Causal Pathogenic evidence from ClinVar 28792876 ClinVar
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 C4540014 HAAO Causal Pathogenic evidence from ClinVar 28792876 ClinVar
KYNU Causal Pathogenic evidence from ClinVar 28792876 ClinVar