upper limb undergrowth Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Arm shortening because of underdevelopment of one or more bones of the upper extremity. (Human Phenotype Ontology, HP_0009824)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009824
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Genes

40 genes associated with the upper limb undergrowth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATR ATR serine/threonine kinase
B2M beta-2-microglobulin
BMPR1B bone morphogenetic protein receptor, type IB
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHUK conserved helix-loop-helix ubiquitous kinase
COL2A1 collagen, type II, alpha 1
DHODH dihydroorotate dehydrogenase (quinone)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF4A3 eukaryotic translation initiation factor 4A3
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GDF5 growth differentiation factor 5
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IHH indian hedgehog
JAG1 jagged 1
LBR lamin B receptor
LRP4 low density lipoprotein receptor-related protein 4
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
RAD51C RAD51 paralog C
RBM10 RNA binding motif protein 10
RECQL4 RecQ protein-like 4
RPL26 ribosomal protein L26
RPS19 ribosomal protein S19
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOX short stature homeobox
SLX4 SLX4 structure-specific endonuclease subunit
TBX3 T-box 3
TBX5 T-box 5
TRIP11 thyroid hormone receptor interactor 11
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16