hand polydactyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. (Human Phenotype Ontology, HP_0001161)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001161
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Genes

134 genes associated with the hand polydactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ACTG1 actin gamma 1
AHI1 Abelson helper integration site 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALX3 ALX homeobox 3
ANKRD11 ankyrin repeat domain 11
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BHLHA9 basic helix-loop-helix family, member a9
BLM Bloom syndrome, RecQ helicase-like
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CCND2 cyclin D2
CD96 CD96 molecule
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CNTN4 contactin 4
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
CRBN cereblon
CSPP1 centrosome and spindle pole associated protein 1
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR7 7-dehydrocholesterol reductase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FNBP4 formin binding protein 4
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
HIRA histone cell cycle regulator
HOXA13 homeobox A13
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KIAA0196 KIAA0196
KIF7 kinesin family member 7
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMBR1 limb development membrane protein 1
LZTFL1 leucine zipper transcription factor-like 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHF8 PHD finger protein 8
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SDCCAG8 serologically defined colon cancer antigen 8
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SH2B1 SH2B adaptor protein 1
SHH sonic hedgehog
SMOC1 SPARC related modular calcium binding 1
TBX1 T-box 1
TBX3 T-box 3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFBR1 transforming growth factor, beta receptor 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TRIM32 tripartite motif containing 32
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TWIST1 twist family bHLH transcription factor 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT7A wingless-type MMTV integration site family, member 7A
ZIC3 Zic family member 3
ZNF423 zinc finger protein 423