Polydactyly

Disease Term Disease ID Gene Symbol References
Bilateral postaxial polydactyly C1855003 GLI3
Polydactyly C0152427 ALX3
BBS1 11567139
BBS2
BBS4
BMP4 21340693
CCND2 24705253
CENPF
CREBBP
CRMP1
MEGF8 23063620
EP300
EVC
FBLN1
FGF10
FGFR1
FGFR3
FGFR2
GPC3 10814714
GLI2 14581620
GLI3 17688467, 31115189
HNRNPK 19477957
HOXA13 9020844
HOXD13 17236141
LBR 29068549
LRP4
NEK1 21211617
OTX2
PDE6D 24166846
PIK3CA 19011570
PIK3R2 26520804
PITX1 23022097
POU1F1
PROP1
PTCH1
PTEN 17427195
SALL1
SC5D
SHH 12032320
SMO 27236920
TBX5 8730285
TBX3
TFAP2A 19685247
TFAP2B 10955477
TWIST1 9585583
WNT7A
WNT10B
ZNF141 23160277
ALMS1 24400638
IFT88 12701101
MKKS
GDF5
USP9X 26833328
RBM10 24259342
OFD1
PTCH2
HESX1
PROM1
IFT140
KIAA0586 26096313, 15554946
AKT3 22729223
CD96 26768331
SPINT2 17786112
EBP 12509714
STAG2
PNPLA6
IFT27 29704304
KIF3A 17698054
PUF60
CILK1 19185282
CEP164
TRIM32 16606853
RPGRIP1L
ADNP
GRIP1 24357607
ARMC8
C2CD3
TCTN3 22883145
TRAF3IP1
IFT172
NPHP3
B9D1 24886560
TRAPPC3
INTU
BBS9
TBX22 22784330
IFT52 26880018
TMEM216
MBTPS2 9021007
TMEM138
DYNC2LI1
SUFU
RAB23
LZTFL1 23692385
AHI1 1341417
MKS1 16415886
PIGX 29127258
DYNC2I1 23910462
BBS7
INPP5E
SALL4
WDR35
CC2D2A 23351400
IFT80 17468754
ZSWIM6
ALX4 9847249
SMOC1 21194680
LMBR1
PORCN 19863546
TMEM237
CPLANE1
TMEM231
DYNC2H1 29458881
BBS10
TXNDC15
TTC21B
CSPP1
TCTN2 21462283
FRAS1 16894541
IFT74
CEP290
B9D2 26092869
DDX59 23972372
CDCA7
ARL6 19858128
CEP19 29127258
LHX4
UBE3B 23200864
TMEM67
CEP41
IFT43 28400947
TTC8
BBS5
EVC2
MIPOL1 11954550
FAM98C
CKAP2L 25439729
CEP120
BBS12
HYLS1
ZDHHC24
DYNLT2B 26044572
FREM2 15838507
KIF7
BHLHA9 22147889
Polydactyly preaxial type 1 C1395852 CHN1
GJA1
GLI1 30620395
GLI3
HOXD13
LETM1
NEK1
SALL1
SHH
SMO
TFAP2A
NSD2
NELFA
OFD1
EFTUD2
MAFB
PHF8
RPGRIP1L
TCTN3
B9D1
WDPCP
TMEM216
DACT1
MKS1
DYNC2I1
CEP55
RPGRIP1
SALL4
WDR35
CC2D2A
IFT80
LMBR1
CPLANE1
TMEM231
DYNC2H1
CSPP1
TCTN2
CEP290
B9D2
TMEM107
COL25A1
DYNC2I2
TMEM67
HYLS1
KIF7
BHLHA9
POLYDACTYLY, POSTAXIAL C0220697 CCND2 29642246
NKX2-5
GPC4
GATA6
GPC3
GLI1
GLI3
HNRNPK
PIK3R2
TBX1
TULP1
USP9X
RBM10
OFD1
KIAA0586
KIAA0753
CILK1
IQCE
C2CD3
TCTN3
INTU
IFT81
SUFU
NCAPG2
IFT57
DYNC2I1
WDR35
CC2D2A
LMBR1
TMEM237
CPLANE1
TMEM231
CSPP1
TCTN2 21462283
B9D2
ARL6
UQCC2
IFT43
CIBAR1 30395363
NKX2-6
CEP120
BBS12
CRB2
CTU2
KIF7
Polydactyly, Postaxial, Type A1 C4282400 CCND2 29642246
GLI3 28315472, 9354785, 31115189, 10441570
CIBAR1 30395363
POLYDACTYLY, POSTAXIAL, TYPE A6 C3808889 ZNF141 23160277
POLYDACTYLY, POSTAXIAL, TYPE A7 C4539976 IQCE 28488682
POLYDACTYLY, POSTAXIAL, TYPE A8 C4748277 GLI1 30620395
Polydactyly, preaxial 4 C1868111 GLI3 31115189, 26394607
POLYDACTYLY, PREAXIAL II (disorder) C1868114 SHH 19847792, 12567406, 18178630, 26394607
LMBR1 26394607, 19847792, 18178630, 11090342
Postaxial polydactyly type A C3887487 CCND2 29642246
GLI3 26394607, 22428873
ZNF141 26394607, 23160277
IQCE 26394607, 28488682
CIBAR1 30395363
KIAA0825 30982135