abnormality of the epiphyses of the phalanges of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). (Human Phenotype Ontology, HP_0005920)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005920
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Genes

23 genes associated with the abnormality of the 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
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
NPR2 natriuretic peptide receptor 2
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
SRCAP Snf2-related CREBBP activator protein
TRPS1 trichorhinophalangeal syndrome I