cone-shaped epiphyses of the phalanges of the hand Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. (Human Phenotype Ontology, HP_0010230)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0010230
Similar Terms
Downloads & Tools

Genes

17 genes associated with the cone-shaped epiphyses of the phalanges 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
COL2A1	collagen, type II, alpha 1
DYM	dymeclin
EIF2AK3	eukaryotic translation initiation factor 2-alpha kinase 3
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
NPR2	natriuretic peptide receptor 2
PRKAR1A	protein kinase, cAMP-dependent, regulatory, type I, alpha
RMRP	RNA component of mitochondrial RNA processing endoribonuclease
RUNX2	runt-related transcription factor 2
SRCAP	Snf2-related CREBBP activator protein
TRPS1	trichorhinophalangeal syndrome I