Persistent hyperplastic primary vitreous

Disease Term Disease ID Gene Symbol Classification References Source
Persistent hyperplastic primary vitreous 91495 ATOH7 Causal Pathogenic evidence from ClinVar - ClinVar
FZD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NDP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Persistent Hyperplastic Primary Vitreous C0266568 ATOH7 Causal Pathogenic evidence from ClinVar 22645276 ClinVar
BCOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRPPA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FZD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19172507, 20092598 -
NDP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PAX6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive C1969783 ATOH7 Causal Pathogenic evidence from ClinVar 11889557, 21441919, 22068589, 22645276 ClinVar
TSPAN12 Causal Pathogenic evidence from ClinVar - ClinVar