Disease Term Disease ID Gene Symbol References
MYELODYSPLASTIC SYNDROME C3463824, 52688 ATRX 19157545
BLM 28297620
BMI1 24571310
BRCA1 28297620
BRAF
BRCA2 28297620
BUB1
BUB1B
CALR
RUNX1 27992414
CBL
CDKN2B 17294728
CEBPA
CSF1R
CSF3R
CTNNA1 17330099
CUX1
DAPK1 19874806
DKC1
DNMT3A 26619011
ELANE
EPO 16076383, 12670338
ERCC4 28297620
MECOM
EZH2 20601954
FANCA 28297620
FANCC 27881370
FANCD2 28297620
FANCE 28297620
FANCB 28297620
FANCF 28297620
FANCG 28297620
GATA1 28963909
GATA2 21892162, 27069254, 27992414, 27418648, 21892158
GFI1
GNB1
HDAC1 28963909
HFE 17001480
HRAS 26619011
IDH1 26619011
IDH2 26619011
JAK2
KIT
KRAS 27992414
LIG4
LYL1 16094422
MPL
TRNL1
MYC 10914558
NRAS 26619011
PIGA
PTPN11
RAD51 28297620
RAD51C 28297620
RAF1
RPS14
RPS19
SRSF2
SMARCD2
SRP54
SRP72
TERC
TERT
THPO
TLR2 28963909
TP53 27992414, 26619011
U2AF1 23861105, 26619011, 22158538, 25311244
XRCC2 28297620
ZRSR2 27992414
GFI1B
DLK1 18575777
CFLAR 16105982
SPHK1 18283525
BUB3
TRIP13
RECQL4
CEP57
GINS1
SH2B3
TCIRG1
HAX1
MAD2L2 28297620
STAG2 27992414
SF3B2 26619011
ARHGAP26
NBEAL2
PLCB1 19805378
ACSL6
SF3B1
SETBP1 23648668, 23889083
TINF2
UBE2T 28297620
SBDS 28297620
DDX41
TET2 19483684, 27992414
SAMD9 27182967
FANCL 28297620
RFWD3
FANCI 28297620
SMPD3 18283525
FANCM 28297620
EFL1
PALB2 28297620
CTC1 28297620
BRIP1 28297620
SLX4 28297620
DNAJC21
NAGS
ASXL1 28107566, 27992414
Myelodysplastic Syndrome with Isolated del(5q) C1292779 RPS14 22571696
Refractory anaemia with excess blasts C0002894 TET2 19483684, 19557078