abnormality of the epiphyses of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the epiphyses of the phalanges or metacarpal bones. (Human Phenotype Ontology, HP_0005924)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005924
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Genes

26 genes associated with the abnormality of the epiphyses of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATR ATR serine/threonine kinase
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
COL2A1 collagen, type II, alpha 1
DYM dymeclin
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
IFT172 intraflagellar transport 172
IHH indian hedgehog
MGP matrix Gla protein
NKX3-2 NK3 homeobox 2
NPR2 natriuretic peptide receptor 2
PCNT pericentrin
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAB23 RAB23, member RAS oncogene family
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SRCAP Snf2-related CREBBP activator protein
TRPS1 trichorhinophalangeal syndrome I