chorioretinal abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the choroid and retina. (Human Phenotype Ontology, HP_0000532)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000532
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Genes

211 genes associated with the chorioretinal abnormality 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
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTB actin, beta
ACTG1 actin gamma 1
ACVRL1 activin A receptor type II-like 1
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALMS1 Alstrom syndrome protein 1
ANK1 ankyrin 1, erythrocytic
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BEST1 bestrophin 1
BMP4 bone morphogenetic protein 4
C12ORF57 chromosome 12 open reading frame 57
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CAPN5 calpain 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CDHR1 cadherin-related family member 1
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CLCN2 chloride channel, voltage-sensitive 2
CLCNKB chloride channel, voltage-sensitive Kb
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COL4A1 collagen, type IV, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRX cone-rod homeobox
CRYBA4 crystallin, beta A4
CTC1 CTS telomere maintenance complex component 1
DHDDS dehydrodolichyl diphosphate synthase
DNM2 dynamin 2
DUX4 double homeobox 4
ELN elastin
ENG endoglin
ETHE1 ethylmalonic encephalopathy 1
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FAM58A family with sequence similarity 58, member A
FGF3 fibroblast growth factor 3
FKRP fukutin related protein
FKTN fukutin
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FZD4 frizzled class receptor 4
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
HCCS holocytochrome c synthase
HHAT hedgehog acyltransferase
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
JAG1 jagged 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRIT1 KRIT1, ankyrin repeat containing
KRT71 keratin 71, type II
KRT74 keratin 74, type II
LARGE like-glycosyltransferase
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LPAR6 lysophosphatidic acid receptor 6
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
MAK male germ cell-associated kinase
MERTK MER proto-oncogene, tyrosine kinase
MKS1 Meckel syndrome, type 1
MT-TK tRNA
MT-TL1 tRNA
MYD88 myeloid differentiation primary response 88
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NF2 neurofibromin 2 (merlin)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOTCH3 notch 3
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OAT ornithine aminotransferase
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PAX2 paired box 2
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
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
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PNPLA6 patatin-like phospholipase domain containing 6
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PRCD progressive rod-cone degeneration
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PTEN phosphatase and tensin homolog
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RNF216 ring finger protein 216
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SIX6 SIX homeobox 6
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC7A14 solute carrier family 7, member 14
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TCTN2 tectonic family member 2
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM114 transmembrane protein 114
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRNE
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCAN versican
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
YAP1 Yes-associated protein 1
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513