cone-shaped epiphysis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. (Human Phenotype Ontology, HP_0010579)
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49 genes associated with the cone-shaped epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
BMPR1B bone morphogenetic protein receptor, type IB
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
COL2A1 collagen, type II, alpha 1
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
FBN1 fibrillin 1
FGF9 fibroblast growth factor 9
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
GPX4 glutathione peroxidase 4
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IHH indian hedgehog
INVS inversin
IQCB1 IQ motif containing B1
NOG noggin
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPR2 natriuretic peptide receptor 2
OFD1 oral-facial-digital syndrome 1
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
POC1A POC1 centriolar protein A
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RBBP8 retinoblastoma binding protein 8
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RUNX2 runt-related transcription factor 2
SDCCAG8 serologically defined colon cancer antigen 8
SHOX short stature homeobox
SMAD4 SMAD family member 4
SRCAP Snf2-related CREBBP activator protein
TRPS1 trichorhinophalangeal syndrome I
TTC21B tetratricopeptide repeat domain 21B
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60