finger syndactyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as Symphalangism. (Human Phenotype Ontology, HP_0006101)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006101
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Genes

145 genes associated with the finger 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
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
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CDH3 cadherin 3, type 1, P-cadherin (placental)
CEP290 centrosomal protein 290kDa
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL7A1 collagen, type VII, alpha 1
CTNND2 catenin (cadherin-associated protein), delta 2
DCHS1 dachsous cadherin-related 1
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DOCK6 dedicator of cytokinesis 6
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
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
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
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
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
HDAC4 histone deacetylase 4
HES7 hes family bHLH transcription factor 7
HOXA11 homeobox A11
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IRF6 interferon regulatory factor 6
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
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
LZTFL1 leucine zipper transcription factor-like 1
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
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NOG noggin
NOTCH1 notch 1
NPHP1 nephronophthisis 1 (juvenile)
NSD1 nuclear receptor binding SET domain protein 1
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
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
RAD51C RAD51 paralog C
RB1 retinoblastoma 1
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
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
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SIX6 SIX homeobox 6
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
SMOC1 SPARC related modular calcium binding 1
SOST sclerostin
TBX5 T-box 5
TCTN3 tectonic family member 3
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
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
WDR35 WD repeat domain 35
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