bony spicule pigmentary retinopathy Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	A term for the pigmented cells within the retina in retinitis pigmentosa because of their resemblance to the nucleated cells within the lacuna of bone. (Human Phenotype Ontology, HP_0007737)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0007737
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Genes

19 genes associated with the bony spicule pigmentary retinopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
ABCA4	ATP-binding cassette, sub-family A (ABC1), member 4
C2ORF71	chromosome 2 open reading frame 71
CLRN1	clarin 1
CNGB1	cyclic nucleotide gated channel beta 1
CRB1	crumbs family member 1, photoreceptor morphogenesis associated
EYS	eyes shut homolog (Drosophila)
FAM161A	family with sequence similarity 161, member A
FLVCR1	feline leukemia virus subgroup C cellular receptor 1
FSCN2	fascin actin-bundling protein 2, retinal
IMPDH1	IMP (inosine 5'-monophosphate) dehydrogenase 1
MFRP	membrane frizzled-related protein
PRCD	progressive rod-cone degeneration
RHO	rhodopsin
RP1	retinitis pigmentosa 1 (autosomal dominant)
RP9	retinitis pigmentosa 9 (autosomal dominant)
SNRNP200	small nuclear ribonucleoprotein 200kDa (U5)
TTC8	tetratricopeptide repeat domain 8
USH2A	Usher syndrome 2A (autosomal recessive, mild)
ZNF513	zinc finger protein 513