Disease Term Disease ID Gene Symbol References
Acro-Osteolysis C0917990 KIF1A
CTSC
COL3A1
FLNA
HPGD
LMNA
NOTCH2
PDGFRB
SCN9A
ZMPSTE24 17152860, 12913070
ATL3
RETREG1
IFIH1
WNK1