retinal dystrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000556
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Genes

56 genes associated with the retinal dystrophy 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
ACO2 aconitase 2, mitochondrial
ADAM9 ADAM metallopeptidase domain 9
AHI1 Abelson helper integration site 1
ALMS1 Alstrom syndrome protein 1
ARL6 ADP-ribosylation factor-like 6
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BMP4 bone morphogenetic protein 4
CEP290 centrosomal protein 290kDa
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CRX cone-rod homeobox
CRYAB crystallin, alpha B
EXOSC3 exosome component 3
GRN granulin
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
LAMA1 laminin, alpha 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
LZTFL1 leucine zipper transcription factor-like 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
OTX2 orthodenticle homeobox 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEX10 peroxisomal biogenesis factor 10
PEX12 peroxisomal biogenesis factor 12
PEX16 peroxisomal biogenesis factor 16
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX6 peroxisomal biogenesis factor 6
PGK1 phosphoglycerate kinase 1
PNPLA6 patatin-like phospholipase domain containing 6
POMT1 protein-O-mannosyltransferase 1
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RAX2 retina and anterior neural fold homeobox 2
RBP4 retinol binding protein 4, plasma
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RLBP1 retinaldehyde binding protein 1
RPGR retinitis pigmentosa GTPase regulator
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
WDPCP WD repeat containing planar cell polarity effector