Disease Term Disease ID Gene Symbol Classification References Source
DUANE RETRACTION SYNDROME ACTR1B Unknown Disgenet
CHN1 Unknown CTD ClinVar Disgenet GWAS catalog Orphanet
COL7A1 Unknown Disgenet
CUX1 Unknown Disgenet
FER Unknown Disgenet
FOXL2 Unknown Disgenet
GNAS Unknown Disgenet
KIF5C Unknown Disgenet
MAFB Unknown CTD ClinVar Disgenet GenCC Orphanet
PTPN11 Unknown Disgenet
SALL4 Unknown CTD ClinVar Disgenet Orphanet
TUBA8 Unknown Disgenet
DUANE RETRACTION SYNDROME 2 CHN1 Causal ClinGen ClinVar GWAS catalog HPO
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS MAFB Causal ClinVar Disgenet GWAS catalog HPO
DUANE RETRACTION SYNDROME WITH CONGENITAL DEAFNESS MAFB Unknown Orphanet
DUANE RETRACTION SYNDROME, TYPE 2 CHN1 Unknown Disgenet
MAFB Unknown Disgenet
TYPE 1 DUANE RETRACTION SYNDROME MAFB Unknown Disgenet