absent hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The total absence of the hand, with no bony elements distal to the radius or ulna. (Human Phenotype Ontology, HP_0004050)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004050
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14 genes associated with the absent 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
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
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
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
LMBR1 limb development membrane protein 1
NOTCH1 notch 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SHFM1 split hand/foot malformation (ectrodactyly) type 1
TBX3 T-box 3
TP63 tumor protein p63
WNT10B wingless-type MMTV integration site family, member 10B