Disease Term Disease ID Gene Symbol References
Thumb aplasia C3278811 ERCC4
FANCA
FANCC
FANCD2
FANCE
FANCB
RAD51C
RPL26
RPS19 1746615, 15384984
SON
TBX5
ZBTB16
RECQL4
FIG4 23623387
SF3B4
RIPK4
RFWD3
FANCI
VAC14
SALL4
RSPO2