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
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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
Funding