absent radius Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Missing radius bone associated with congenital failure of development. (Human Phenotype Ontology, HP_0003974)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003974
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Genes

21 genes associated with the absent radius phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHD7 chromodomain helicase DNA binding protein 7
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
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
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
HOXD13 homeobox D13
LMBR1 limb development membrane protein 1
MIPOL1 mirror-image polydactyly 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
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
TBX3 T-box 3
ZIC3 Zic family member 3