epiphyseal stippling Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012). (Human Phenotype Ontology, HP_0010655)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010655
Similar Terms
Downloads & Tools

Genes

27 genes associated with the epiphyseal stippling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPS alkylglycerone phosphate synthase
ARSE arylsulfatase E (chondrodysplasia punctata 1)
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
EBP emopamil binding protein (sterol isomerase)
GGCX gamma-glutamyl carboxylase
GUSB glucuronidase, beta
LBR lamin B receptor
MGP matrix Gla protein
NEU1 sialidase 1 (lysosomal sialidase)
NSDHL NAD(P) dependent steroid dehydrogenase-like
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
THRB thyroid hormone receptor, beta