Disease Term Disease ID Gene Symbol References
Rieger syndrome C0265341 COL4A1 17696175, 20385946
CTBP1
FOXC1 11170889, 9620769, 19513095
IGF1R
LETM1
PIK3R1
PITX2 24433355, 19513095
PTCH1 26893459
WHCR
NSD2
CPLX1
FGFRL1
ADAMTSL1