retinal degeneration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000546
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Genes

43 genes associated with the retinal degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
APOB apolipoprotein B
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CLDN19 claudin 19
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A2 collagen, type IX, alpha 2
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
MAN2B1 mannosidase, alpha, class 2B, member 1
MCOLN1 mucolipin 1
NPHP1 nephronophthisis 1 (juvenile)
NR2E3 nuclear receptor subfamily 2, group E, member 3
P3H2 prolyl 3-hydroxylase 2
PANK2 pantothenate kinase 2
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PHYH phytanoyl-CoA 2-hydroxylase
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPT1 palmitoyl-protein thioesterase 1
PRPF8 pre-mRNA processing factor 8
RS1 retinoschisin 1
SDCCAG8 serologically defined colon cancer antigen 8
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SPG11 spastic paraplegia 11 (autosomal recessive)
SUMF1 sulfatase modifying factor 1
TMEM67 transmembrane protein 67
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TPP1 tripeptidyl peptidase I
TTC21B tetratricopeptide repeat domain 21B
VCAN versican
WRN Werner syndrome, RecQ helicase-like
WWOX WW domain containing oxidoreductase
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF423 zinc finger protein 423