Ellis-van creveld syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Ellis Van Creveld syndrome 289 EVC Causal Pathogenic evidence from ClinVar - ClinVar
EVC2 Causal Pathogenic evidence from ClinVar - ClinVar
DYNC2LI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Ellis-Van Creveld Syndrome C0013903 EVC Causal Pathogenic evidence from ClinVar 10700184, 17024374, 17660199, 18947413, 19251731, 19744229, 19810119, 20184732, 21815252, 22791528, 23026747, 23220543, 28854412, 29068549, 29321360 ClinVar
EVC2 Causal Pathogenic evidence from ClinVar 12468274, 12571802, 16404586, 17024374, 19251731, 19810119, 19876929, 21199751, 21815252, 22190900, 22406498, 22791528, 23026208, 23220543, 25525159, 26219237, 26580685, 26748586, 26818569, 27280866, 28081373 ClinVar
CRMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10700184, 17024374, 19810119, 20184732, 23220543, 29068549, 29321360 -
DYNC2LI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26130459 -
GLI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28973407 -