Mesomelia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. (Human Phenotype Ontology, HP_0003027)
External Link https://www.disgenet.org/browser/0/1/0/C0549306
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Genes

25 genes associated with the disease Mesomelia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
CREB3L1 cAMP responsive element binding protein 3-like 1
DHCR7 7-dehydrocholesterol reductase
DONSON downstream neighbor of SON
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
EIF4A3 eukaryotic translation initiation factor 4A3
FGFR3 fibroblast growth factor receptor 3
GPC6 glypican 6
ICK intestinal cell (MAK-like) kinase
IFT80 intraflagellar transport 80
LBR lamin B receptor
NEK1 NIMA-related kinase 1
NOTCH2 notch 2
NXN nucleoredoxin
PTH1R parathyroid hormone 1 receptor
ROR2 receptor tyrosine kinase-like orphan receptor 2
SHH sonic hedgehog
SHOX short stature homeobox
SIK3 SIK family kinase 3
TBX15 T-box 15
TONSL tonsoku-like, DNA repair protein
TRIP11 thyroid hormone receptor interactor 11
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A