Disease Term Disease ID Gene Symbol References
Clinodactyly of the 5th finger C1850049 ABL1 28288113
ACVR1
JAG1
AKT1
RERE
ATR
ATRX
BCR
BLM
BMP2
BMPR1B
BRCA1
BRAF
BRCA2
BUB1
BUB1B
RUNX2
CDC6
CENPE
CHRNA7
COL11A1
CREBBP
CRKL
NKX2-5
DHPS
DMD
DPAGT1
SLC26A2
DVL1
DVL3
DYRK1A
EFNB1
ELN
EP300
ERCC4
EVC
MECOM
EXT2
FANCA
FANCC
FANCD2
FANCE
BPTF 28942966
FANCB
FANCF
FANCG
GPC4
FGD1
FGF10
FGFR3
FGFR2
FOXG1
FLII
FLNB
AFF2
FUCA1
FZD2
GABRD
GATA4
GATA6
GDF1
GJA1
GJA5
GPC3
GNAQ
GTF2I
HIC1
HOXA11
HOXA13
HOXD13
IGF1
IGF2
IHH
KCNJ2
KRAS
L1CAM
LIG4
LIMK1
LMX1B
MECP2
KMT2A
NONO
NRAS
ROR2
ORC1
ORC4
PAFAH1B1
PCNT
PIGH
PITX1
MAPK1
MASP1
PTCH1
PTEN
PTH1R
PTPN11
RAD21
RAD51
RAD51C
RAF1
RALA 30500825
RASA2
RB1
RBBP8
REV3L
RFC2
RIT1
RRAS
SALL1
SHH
SHOX
SIM1
SKI
SNRPB
SOS1
SOS2
SOX4 30661772
CDKL5
STXBP1
TBX1
TBX15
TCF20
TFAP2A
TFAP2B
TRIO
TRPS1
TWIST1
UBE3A
CLIP2
WNT5A
XRCC2
XRCC4
YWHAE
KAT6A 25728777
HMGA2
GDF5
LZTR1
SMC1A
NAA10
TRRAP
CDC45
CUL4B
OFD1
KCNAB2
CDK13 28807008
TP63
SYNGAP1
BAZ1B
SMC3
BUB3
NOG
TRIP13
PIGL
TBX4
MACROH2A1
GABBR2
GTF2IRD1
CEP57
SEMA3E
HDAC4
EIF4A3
CUL7
RBM8A
AMMECR1
SLC12A6
HUWE1
PQBP1
CD96
TRAIP
CITED2
EMG1
MAD2L2
SLC9A6
DEAF1
EBP
PLK4
STAG2
RAI1
WDR4
SRCAP
PNPLA6
KPTN
MAN1B1
MRAS
PUF60
NTNG1
CHSY1
MORC2
RAB18
CEP152
KDM1A
IQSEC2
PLXND1
KDM6B
MAPK8IP3
PACS2
SATB2
OBSL1 30980518
SPECC1L
ZFPM2
TGDS
KAT6B
PIGN
LEMD3
ORC6
NIPBL
SIN3A 30267900
WIPI2
ZBTB20
TBL2
UBE2T
ANKRD11
DONSON
KCNK4
GMNN
IFT52
NIN
DACT1
RAB23
RNF216
BCOR
NSUN2
FANCL
RFWD3
CEP55
SETD5
FANCI
CHD7
PACS1
IFT122
MBD5
CENPJ
HDAC8
ZC4H2
TBC1D24
ARID1B
WDR35
FANCM
WDR19
TRPV4
PIEZO2
PRDM16
SMOC1
XYLT1
LMBR1
NXN
NUP37
PALB2
EHMT1
SLC2A10
CDT1
TRAPPC9
CCDC8
BRIP1
ATRIP
SLX4
SLC9A7
SHANK3
CCDC65
UBE3B
CCNQ
PIGS
IFT43
NACC1
C12orf57
CANT1
EVC2
NKX2-6
AMER1
GATA5
A2ML1
B3GLCT
CKAP2L
ESCO2
VPS13B
UBR1
BRAT1
EBF3 28017372
H19
UNC80
SH3PXD2B
KIF7
BHLHA9
RNU4ATAC
Clinodactyly of the 4th finger C4022484 KCNJ11
ABCC8