Disease Term Disease ID Gene Symbol Classification References Source
HETEROTAXY, VISCERAL, 4, AUTOSOMAL C3151057 ACVR2B Causal Pathogenic evidence from ClinVar 9916847 ClinVar
HETEROTAXY, VISCERAL, 6, AUTOSOMAL C3553676 CFAP53 Causal Pathogenic evidence from ClinVar 22577226, 25504577, 26531781, 28621423 ClinVar
HETEROTAXY, VISCERAL, 2, AUTOSOMAL C1415817 CFC1 Causal Pathogenic evidence from ClinVar 11062482, 11799476, 25423076 ClinVar
HETEROTAXY, VISCERAL, 7, AUTOSOMAL C4225217 MMP21 Causal Pathogenic evidence from ClinVar 26429889, 26437028, 26437029 ClinVar
Heterotaxy, Visceral, 5, Autosomal C3495537 NODAL Causal Pathogenic evidence from ClinVar 9354794, 19064609 ClinVar
ZIC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HETEROTAXY, VISCERAL, 8, AUTOSOMAL C4310668 PKD1L1 Causal Pathogenic evidence from ClinVar 27616478 ClinVar