Acrofacial dysostosis

Disease Term Disease ID Gene Symbol Classification References Source
Acrofacial Dysostosis C1332140 POLR1A Causal Pathogenic evidence from ClinVar 25434003 ClinVar
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE C4225317 POLR1A Causal Pathogenic evidence from ClinVar 25434003, 25913037 ClinVar
Acrofacial dysostosis, Weyers type 952 EVC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EVC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Acrofacial dysostosis Rodriguez type C1860119 SF3B4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27642715 -
Acrofacial dysostosis, Rodr guez type 1788 SF3B4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -