Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY CTDP1 Unknown CTD Disgenet HPO
GJA3 Unknown Disgenet
CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME CTDP1 Causal ClinVar GWAS catalog Orphanet