preaxial hand polydactyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. (Human Phenotype Ontology, HP_0001177)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001177
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Genes

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

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BCOR BCL6 corepressor
BHLHA9 basic helix-loop-helix family, member a9
BMP4 bone morphogenetic protein 4
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IFT80 intraflagellar transport 80
KIF7 kinesin family member 7
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMBR1 limb development membrane protein 1
MIPOL1 mirror-image polydactyly 1
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
OFD1 oral-facial-digital syndrome 1
PHF8 PHD finger protein 8
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHH sonic hedgehog
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1