Disease Term Disease ID Gene Symbol References
Retinal Dysplasia C0035313 COL2A1
COL4A1
COX7B
DAG1
FKTN
FOXE3
FLNB
HCCS
KIF11
NDP
PDE6D
SLBP 30695021
FZD4
LARGE1
RXYLT1
POMT1
B4GAT1
PRSS23
POMT2
NDUFB11
POMGNT1
FKRP
POMK
POMGNT2
B3GALNT2
CRPPA