aplasia/hypoplasia of the radius Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A small/hypoplastic or absent/aplastic radius. (Human Phenotype Ontology, HP_0006501)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006501
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Genes

67 genes associated with the aplasia/hypoplasia of the radius phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATR ATR serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLX3 distal-less homeobox 3
EIF4A3 eukaryotic translation initiation factor 4A3
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GPC6 glypican 6
HOXD13 homeobox D13
IHH indian hedgehog
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MIPOL1 mirror-image polydactyly 1
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
PALB2 partner and localizer of BRCA2
PDE4D phosphodiesterase 4D, cAMP-specific
PITX1 paired-like homeodomain 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAD51C RAD51 paralog C
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RPL26 ribosomal protein L26
RPS19 ribosomal protein S19
SALL4 spalt-like transcription factor 4
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
TGFB1 transforming growth factor, beta 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRIP11 thyroid hormone receptor interactor 11
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16
ZIC3 Zic family member 3