Disease Term Disease ID Gene Symbol Classification References Source
ANTERIOR SEGMENT DYSGENESIS 8 C4310622 CPAMD8 Causal Pathogenic evidence from ClinVar 27839872, 29556725 ClinVar
ANTERIOR SEGMENT DYSGENESIS 6 C4310623 CYP1B1 Causal Pathogenic evidence from ClinVar - ClinVar
CYP1B1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANTERIOR SEGMENT DYSGENESIS 1 C4551992 PITX3 Causal Pathogenic evidence from ClinVar 15286169, 17888164, 20033184, 24555714 ClinVar
FOXE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3550563, 21150893, 24859618 -
ANTERIOR SEGMENT DYSGENESIS 7 C3151617 PXDN Causal Pathogenic evidence from ClinVar 21907015, 24939590 ClinVar
ATOH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22068589 -
PTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26893459 -