Disease Term Disease ID Gene Symbol References
Hypoplasia of thumb C0431890 ACAN
APC
ATP6V1B2
BMPR1B
COL2A1
DHCR7
DHODH
FANCA
FANCC
FANCD2
FANCE
FBN1
FLNA
HOXA13
IHH
LETM1
LRP4
LTBP2
MGP
PTCH1
RAD51C
RPL5
RPL11 19191325, 19061985
RPS19 15384984, 1746615
TFAP2A
NSD2
NELFA
GDF5
RECQL4
SEMA3E
EIF4A3
KDM1A
SIN3A
WIPI2
UBE2T
CHST11
BCOR
CHD7
SALL4
PALB2
EHMT1
ADAMTS10
LMNB2
ESCO2
MIR17HG
BHLHA9