small hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Disproportionately small hand. (Human Phenotype Ontology, HP_0200055)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0200055
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Genes

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

Symbol Name
ADNP activity-dependent neuroprotector homeobox
CCBE1 collagen and calcium binding EGF domains 1
CDKL5 cyclin-dependent kinase-like 5
COL11A1 collagen, type XI, alpha 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
HDAC8 histone deacetylase 8
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIF1BP KIF1 binding protein
MAGEL2 melanoma antigen family L2
MBD5 methyl-CpG binding domain protein 5
NGLY1 N-glycanase 1
ORC1 origin recognition complex, subunit 1
POC1A POC1 centriolar protein A
RECQL4 RecQ protein-like 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
SMC3 structural maintenance of chromosomes 3
TBCE tubulin folding cofactor E
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WDR81 WD repeat domain 81
WNT5A wingless-type MMTV integration site family, member 5A
ZDHHC15 zinc finger, DHHC-type containing 15