abnormal morphology of bones of the upper limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0040065
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Genes

48 genes associated with the abnormal morphology of bones of the upper limbs 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
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMPR1B bone morphogenetic protein receptor, type IB
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
DHODH dihydroorotate dehydrogenase (quinone)
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
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
HOXA11 homeobox A11
HOXD13 homeobox D13
IHH indian hedgehog
JAG1 jagged 1
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
MMP13 matrix metallopeptidase 13
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
P3H1 prolyl 3-hydroxylase 1
PCNT pericentrin
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POR P450 (cytochrome) oxidoreductase
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RBM10 RNA binding motif protein 10
RECQL4 RecQ protein-like 4
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
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