split hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. (Human Phenotype Ontology, HP_0001171)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001171
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Genes

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

Symbol Name
ARHGAP31 Rho GTPase activating protein 31
ARSB arylsulfatase B
BHLHA9 basic helix-loop-helix family, member a9
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CDH3 cadherin 3, type 1, P-cadherin (placental)
CHD7 chromodomain helicase DNA binding protein 7
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DHCR7 7-dehydrocholesterol reductase
DLX5 distal-less homeobox 5
DOCK6 dedicator of cytokinesis 6
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FBXW4 F-box and WD repeat domain containing 4
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FNBP4 formin binding protein 4
GDAP1 ganglioside induced differentiation associated protein 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HDAC8 histone deacetylase 8
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDS iduronate 2-sulfatase
INF2 inverted formin, FH2 and WH2 domain containing
IRF6 interferon regulatory factor 6
LRP4 low density lipoprotein receptor-related protein 4
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MMP2 matrix metallopeptidase 2
NIPBL Nipped-B homolog (Drosophila)
NOTCH1 notch 1
PMP22 peripheral myelin protein 22
PORCN porcupine homolog (Drosophila)
RAD21 RAD21 homolog (S. pombe)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
TBX3 T-box 3
TP63 tumor protein p63
WNT10B wingless-type MMTV integration site family, member 10B
WNT7A wingless-type MMTV integration site family, member 7A