Retinitis pigmentosa Gene Set
Genes
24 genes associated with the Retinitis pigmentosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol |
Name |
|
BEST1
|
bestrophin 1
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CRX
|
cone-rod homeobox
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MAK
|
male germ cell-associated kinase
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MYO7A
|
myosin VIIA
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
RHO
|
rhodopsin
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TULP1
|
tubby like protein 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
