Cone-Rod Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. (Human Disease Ontology, DOID_0050572)
External Link https://www.disgenet.org/browser/0/1/0/C1423873
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Genes

254 genes associated with the disease Cone-Rod Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACTB actin, beta
ACTN3 actinin, alpha 3 (gene/pseudogene)
ADAM9 ADAM metallopeptidase domain 9
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
AGTR1 angiotensin II receptor, type 1
AHI1 Abelson helper integration site 1
AHSG alpha-2-HS-glycoprotein
AIF1 allograft inflammatory factor 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALMS1 Alstrom syndrome protein 1
ALOX12 arachidonate 12-lipoxygenase
ALPG alkaline phosphatase, germ cell
AMD1 adenosylmethionine decarboxylase 1
AMIGO3 adhesion molecule with Ig-like domain 3
AQP4 aquaporin 4
ARL3 ADP-ribosylation factor-like 3
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATF6 activating transcription factor 6
ATXN7 ataxin 7
B2M beta-2-microglobulin
BDNF brain-derived neurotrophic factor
C21ORF2 chromosome 21 open reading frame 2
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
C9ORF72 chromosome 9 open reading frame 72
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CASZ1 castor zinc finger 1
CCK cholecystokinin
CCL28 chemokine (C-C motif) ligand 28
CCN2 cellular communication network factor 2
CD200 CD200 molecule
CD200R1 CD200 receptor 1
CD38 CD38 molecule
CD6 CD6 molecule
CD69 CD69 molecule
CDHR1 cadherin-related family member 1
CEP250 centrosomal protein 250kDa
CEP290 centrosomal protein 290kDa
CEP78 centrosomal protein 78kDa
CERKL ceramide kinase-like
CHRM3 cholinergic receptor, muscarinic 3
CLTA clathrin, light chain A
CNGA1 cyclic nucleotide gated channel alpha 1
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNTN3 contactin 3 (plasmacytoma associated)
CNTN6 contactin 6
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRP C-reactive protein, pentraxin-related
CRX cone-rod homeobox
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CST3 cystatin C
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSL cathepsin L
CTSS cathepsin S
CUX1 cut-like homeobox 1
CYBB cytochrome b-245, beta polypeptide
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DPYSL2 dihydropyrimidinase-like 2
DRAM2 DNA-damage regulated autophagy modulator 2
DUSP19 dual specificity phosphatase 19
EDA ectodysplasin A
EGF epidermal growth factor
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EPHB2 EPH receptor B2
EPO erythropoietin
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
EYS eyes shut homolog (Drosophila)
F2 coagulation factor II (thrombin)
FAM161A family with sequence similarity 161, member A
FAM57B family with sequence similarity 57, member B
FES FES proto-oncogene, tyrosine kinase
FGF1 fibroblast growth factor 1 (acidic)
FGF2 fibroblast growth factor 2 (basic)
FN1 fibronectin 1
FXN frataxin
FZD4 frizzled class receptor 4
GAL3ST1 galactose-3-O-sulfotransferase 1
GAP43 growth associated protein 43
GDE1 glycerophosphodiester phosphodiesterase 1
GDNF glial cell derived neurotrophic factor
GFAP glial fibrillary acidic protein
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2
GPR151 G protein-coupled receptor 151
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRM2 glutamate receptor, metabotropic 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCA2A guanylate cyclase activator 2A (guanylin)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HCLS1 hematopoietic cell-specific Lyn substrate 1
HDAC3 histone deacetylase 3
HES5 hes family bHLH transcription factor 5
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB1 high mobility group box 1
HRH1 histamine receptor H1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IFNB1 interferon, beta 1, fibroblast
IFT81 intraflagellar transport 81
IGF1 insulin-like growth factor 1 (somatomedin C)
IGSF1 immunoglobulin superfamily, member 1
IL1B interleukin 1, beta
IL2RB interleukin 2 receptor, beta
IL6 interleukin 6
IL7 interleukin 7
IQGAP1 IQ motif containing GTPase activating protein 1
ITGAD integrin, alpha D
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KHSRP KH-type splicing regulatory protein
KLF7 Kruppel-like factor 7 (ubiquitous)
KNG1 kininogen 1
LAMC2 laminin, gamma 2
LCA5 Leber congenital amaurosis 5
LEF1 lymphoid enhancer-binding factor 1
LGALS1 lectin, galactoside-binding, soluble, 1
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LINGO1 leucine rich repeat and Ig domain containing 1
LPAR3 lysophosphatidic acid receptor 3
LRP6 low density lipoprotein receptor-related protein 6
LYVE1 lymphatic vessel endothelial hyaluronan receptor 1
LZTFL1 leucine zipper transcription factor-like 1
MAP9 microtubule-associated protein 9
MAPK1 mitogen-activated protein kinase 1
MBP myelin basic protein
MDK midkine (neurite growth-promoting factor 2)
MFSD8 major facilitator superfamily domain containing 8
MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MSC musculin
MSTN myostatin
MT1B metallothionein 1B
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTTP microsomal triglyceride transfer protein
NCR3 natural cytotoxicity triggering receptor 3
NFE2L2 nuclear factor, erythroid 2-like 2
NGF nerve growth factor (beta polypeptide)
NGLY1 N-glycanase 1
NIPAL1 NIPA-like domain containing 1
NISCH nischarin
NLN neurolysin (metallopeptidase M3 family)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRG4 neuregulin 4
NTF3 neurotrophin 3
NUMB numb homolog (Drosophila)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OXER1 oxoeicosanoid (OXE) receptor 1
PANK2 pantothenate kinase 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDC phosducin
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PITPNM3 PITPNM family member 3
PLG plasminogen
POC1B POC1 centriolar protein B
POMC proopiomelanocortin
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROM1 prominin 1
PRPH peripherin
PRPH2 peripherin 2 (retinal degeneration, slow)
PSIP1 PC4 and SFRS1 interacting protein 1
PTEN phosphatase and tensin homolog
PTK2B protein tyrosine kinase 2 beta
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRF protein tyrosine phosphatase, receptor type, F
RAB28 RAB28, member RAS oncogene family
RAB3A RAB3A, member RAS oncogene family
RANGAP1 Ran GTPase activating protein 1
RAX2 retina and anterior neural fold homeobox 2
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGMA repulsive guidance molecule family member a
RHO rhodopsin
RIMS1 regulating synaptic membrane exocytosis 1
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
S100B S100 calcium binding protein B
SAR1A secretion associated, Ras related GTPase 1A
SAR1B secretion associated, Ras related GTPase 1B
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SIGLEC7 sialic acid binding Ig-like lectin 7
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMS spermine synthase
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SNX27 sorting nexin family member 27
SOAT1 sterol O-acyltransferase 1
SOD1 superoxide dismutase 1, soluble
SOX11 SRY (sex determining region Y)-box 11
SP4 Sp4 transcription factor
SPATA7 spermatogenesis associated 7
SPP1 secreted phosphoprotein 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STMN1 stathmin 1
STMN2 stathmin 2
TAC1 tachykinin, precursor 1
TARDBP TAR DNA binding protein
TCF3 transcription factor 3
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TREM1 triggering receptor expressed on myeloid cells 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TSPO translocator protein (18kDa)
TST thiosulfate sulfurtransferase (rhodanese)
TTLL5 tubulin tyrosine ligase-like family member 5
TULP1 tubby like protein 1
TULP2 tubby like protein 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC119 unc-119 homolog (C. elegans)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WASF3 WAS protein family, member 3