syndactyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A synostosis that results_in the fusion of two or more digits. (Human Disease Ontology, DOID_11193)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001159
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Genes

211 genes associated with the syndactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANKRD11 ankyrin repeat domain 11
ARHGAP31 Rho GTPase activating protein 31
ARL6 ADP-ribosylation factor-like 6
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
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
BCR breakpoint cluster region
BHLHA9 basic helix-loop-helix family, member a9
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
C15ORF41 chromosome 15 open reading frame 41
C5ORF42 chromosome 5 open reading frame 42
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CD96 CD96 molecule
CDAN1 codanin 1
CDH3 cadherin 3, type 1, P-cadherin (placental)
CEP290 centrosomal protein 290kDa
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHSY1 chondroitin sulfate synthase 1
CLCF1 cardiotrophin-like cytokine factor 1
COL7A1 collagen, type VII, alpha 1
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTNND2 catenin (cadherin-associated protein), delta 2
CUL4B cullin 4B
DCHS1 dachsous cadherin-related 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DOCK6 dedicator of cytokinesis 6
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBXW4 F-box and WD repeat domain containing 4
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HOXA11 homeobox A11
HOXD13 homeobox D13
ICK intestinal cell (MAK-like) kinase
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL11RA interleukin 11 receptor, alpha
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCTD1 potassium channel tetramerization domain containing 1
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LZTFL1 leucine zipper transcription factor-like 1
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
NDN necdin, melanoma antigen (MAGE) family member
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH1 notch 1
NPHP1 nephronophthisis 1 (juvenile)
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX1 paired-like homeodomain 1
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SDCCAG8 serologically defined colon cancer antigen 8
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SIX6 SIX homeobox 6
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOST sclerostin
TBX15 T-box 15
TBX22 T-box 22
TBX5 T-box 5
TCTN3 tectonic family member 3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM231 transmembrane protein 231
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TWIST1 twist family bHLH transcription factor 1
VPS13B vacuolar protein sorting 13 homolog B (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
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
ZSWIM6 zinc finger, SWIM-type containing 6