Disease Term Disease ID Gene Symbol References
Miller Dieker syndrome C0265219 BLM 28297620
BRCA1 28297620
BRCA2 28297620
DCX
ERCC4 28297620
FANCA 28297620
FANCC 27881370
FANCD2 28297620
FANCE 28297620
FANCB 28297620
FANCF 28297620
FANCG 28297620
HIC1 10072440, 10655551
MNT 15028671
PAFAH1B1 12621583
RAD51 28297620
RAD51C 28297620
XRCC2 28297620
YWHAE 19584063
MAD2L2 28297620
UBE2T 28297620
SBDS 28297620
FANCL 28297620
FANCI 28297620
FANCM 28297620
PALB2 28297620
CTC1 28297620
BRIP1 28297620
SLX4 28297620
Miller-Dieker syndrome 531 HIC1
YWHAE
PAFAH1B1