Achromatopsia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (Human Disease Ontology, DOID_13911)
Similar Terms
Downloads & Tools

Genes

256 genes co-occuring with the disease Achromatopsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
CNGB3 cyclic nucleotide gated channel beta 3 4.0
CNGA3 cyclic nucleotide gated channel alpha 3 4.0
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 3.84
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 3.798
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 3.643
RPE65 retinal pigment epithelium-specific protein 65kDa 3.183
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 3.123
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 3.021
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 2.993
RPGR retinitis pigmentosa GTPase regulator 2.979
ATF6 activating transcription factor 6 2.885
CNGB1 cyclic nucleotide gated channel beta 1 2.873
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 2.804
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 2.729
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 2.722
CNGA1 cyclic nucleotide gated channel alpha 1 2.694
PRPH2 peripherin 2 (retinal degeneration, slow) 2.642
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 2.636
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 2.619
RHO rhodopsin 2.609
CEP290 centrosomal protein 290kDa 2.593
FRMD7 FERM domain containing 7 2.592
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 2.59
BEST1 bestrophin 1 2.512
ARR3 arrestin 3, retinal (X-arrestin) 2.498
SLC38A8 solute carrier family 38, member 8 2.497
EYS eyes shut homolog (Drosophila) 2.496
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 2.485
CRX cone-rod homeobox 2.484
NR2E3 nuclear receptor subfamily 2, group E, member 3 2.462
GRK1 G protein-coupled receptor kinase 1 2.454
USH2A Usher syndrome 2A (autosomal recessive, mild) 2.449
GPR143 G protein-coupled receptor 143 2.447
TULP1 tubby like protein 1 2.366
IQCB1 IQ motif containing B1 2.351
NYX nyctalopin 2.346
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 2.338
CNGA4 cyclic nucleotide gated channel alpha 4 2.334
RGS9BP regulator of G protein signaling 9 binding protein 2.308
RS1 retinoschisin 1 2.301
OPN1SW opsin 1 (cone pigments), short-wave-sensitive 2.289
RP1L1 retinitis pigmentosa 1-like 1 2.277
MERTK MER proto-oncogene, tyrosine kinase 2.258
PAX6 paired box 6 2.247
CNTF ciliary neurotrophic factor 2.233
MYO7A myosin VIIA 2.223
CHM choroideremia (Rab escort protein 1) 2.181
CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 2.174
PCARE photoreceptor cilium actin regulator 2.17
FAM161A family with sequence similarity 161, member A 2.141
CDHR1 cadherin-related family member 1 2.141
OPN4 opsin 4 2.112
RD3 retinal degeneration 3 2.082
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 2.077
PRPF31 pre-mRNA processing factor 31 2.073
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 2.063
SPATA7 spermatogenesis associated 7 2.046
NXNL1 nucleoredoxin-like 1 2.03
LCA5 Leber congenital amaurosis 5 2.01
GUCA1A guanylate cyclase activator 1A (retina) 2.009
PRCD progressive rod-cone degeneration 2.008
GRK7 G protein-coupled receptor kinase 7 2.008
CERKL ceramide kinase-like 2.004
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 2.002
RLBP1 retinaldehyde binding protein 1 1.991
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1.988
CABP4 calcium binding protein 4 1.976
ROM1 retinal outer segment membrane protein 1 1.967
RAB28 RAB28, member RAS oncogene family 1.965
NRL neural retina leucine zipper 1.964
POC1B POC1 centriolar protein B 1.94
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 1.913
RBP3 retinol binding protein 3, interstitial 1.912
TTLL5 tubulin tyrosine ligase-like family member 5 1.903
BBS1 Bardet-Biedl syndrome 1 1.88
CNGA2 cyclic nucleotide gated channel alpha 2 1.878
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 1.869
RAX2 retina and anterior neural fold homeobox 2 1.864
ATF6B activating transcription factor 6 beta 1.86
TTLL10 tubulin tyrosine ligase-like family member 10 1.85
ALMS1 Alstrom syndrome protein 1 1.827
GRM6 glutamate receptor, metabotropic 6 1.814
IMPG2 interphotoreceptor matrix proteoglycan 2 1.805
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1.788
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.787
NPHP4 nephronophthisis 4 1.777
VSX2 visual system homeobox 2 1.753
GUCA1B guanylate cyclase activator 1B (retina) 1.729
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 1.713
CLN3 ceroid-lipofuscinosis, neuronal 3 1.696
OTX2 orthodenticle homeobox 2 1.675
SAG S-antigen; retina and pineal gland (arrestin) 1.66
ELOVL4 ELOVL fatty acid elongase 4 1.653
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 1.633
CLRN1 clarin 1 1.622
MBTPS1 membrane-bound transcription factor peptidase, site 1 1.616
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 1.607
OCA2 oculocutaneous albinism II 1.599
PRPF8 pre-mRNA processing factor 8 1.597
CNBD1 cyclic nucleotide binding domain containing 1 1.592
BBS2 Bardet-Biedl syndrome 2 1.582
PITPNM3 PITPNM family member 3 1.58
CXADR coxsackie virus and adenovirus receptor 1.575
IMPG1 interphotoreceptor matrix proteoglycan 1 1.573
BBS7 Bardet-Biedl syndrome 7 1.572
REEP6 receptor accessory protein 6 1.57
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 1.545
ZNF449 zinc finger protein 449 1.541
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 1.539
SLC45A2 solute carrier family 45, member 2 1.536
UNC119 unc-119 homolog (C. elegans) 1.535
MFRP membrane frizzled-related protein 1.526
USH1G Usher syndrome 1G (autosomal recessive) 1.521
DRAM2 DNA-damage regulated autophagy modulator 2 1.52
RCVRN recoverin 1.519
FARP2 FERM, RhoGEF and pleckstrin domain protein 2 1.512
PRPF6 pre-mRNA processing factor 6 1.51
GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 1.497
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 1.497
WHRN whirlin 1.487
RIMS1 regulating synaptic membrane exocytosis 1 1.48
USH1C Usher syndrome 1C (autosomal recessive, severe) 1.472
PROM1 prominin 1 1.469
RP9 retinitis pigmentosa 9 (autosomal dominant) 1.468
BBS12 Bardet-Biedl syndrome 12 1.465
ERN1 endoplasmic reticulum to nucleus signaling 1 1.462
GJD2 gap junction protein, delta 2, 36kDa 1.461
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 1.451
DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3 1.442
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 1.442
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 1.438
BBS5 Bardet-Biedl syndrome 5 1.43
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 1.425
CFAP410 cilia and flagella associated protein 410 1.425
GUCY2F guanylate cyclase 2F, retinal 1.421
BBS10 Bardet-Biedl syndrome 10 1.42
LYG2 lysozyme G-like 2 1.419
XBP1 X-box binding protein 1 1.41
PRPF4 pre-mRNA processing factor 4 1.396
CCDC136 coiled-coil domain containing 136 1.39
BBS4 Bardet-Biedl syndrome 4 1.388
ADGRV1 adhesion G protein-coupled receptor V1 1.375
CC2D2A coiled-coil and C2 domain containing 2A 1.369
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 1.368
MBTPS2 membrane-bound transcription factor peptidase, site 2 1.363
LYG1 lysozyme G-like 1 1.362
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 1.356
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 1.353
PRPF3 pre-mRNA processing factor 3 1.351
STK38L serine/threonine kinase 38 like 1.35
CDH23 cadherin-related 23 1.344
ACBD5 acyl-CoA binding domain containing 5 1.343
GPR179 G protein-coupled receptor 179 1.341
PPP1R42 protein phosphatase 1, regulatory subunit 42 1.338
FSCN2 fascin actin-bundling protein 2, retinal 1.329
LRMDA leucine rich melanocyte differentiation associated 1.32
DTHD1 death domain containing 1 1.318
AHI1 Abelson helper integration site 1 1.311
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 1.31
MMGT1 membrane magnesium transporter 1 1.309
EFHD1 EF-hand domain family, member D1 1.308
DDIT3 DNA-damage-inducible transcript 3 1.306
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 1.305
IFT38 intraflagellar transport 38 1.304
ARL3 ADP-ribosylation factor-like 3 1.3
CCDC13 coiled-coil domain containing 13 1.3
TYR tyrosinase 1.298
IFT140 intraflagellar transport 140 1.278
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 1.277
CALM3 calmodulin 3 (phosphorylase kinase, delta) 1.268
ADAM9 ADAM metallopeptidase domain 9 1.267
TTC8 tetratricopeptide repeat domain 8 1.266
GJA9 gap junction protein, alpha 9, 59kDa 1.266
GDF6 growth differentiation factor 6 1.26
PRDM13 PR domain containing 13 1.258
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 1.25
ACTB actin, beta 1.244
DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 1.242
OR6C3 olfactory receptor, family 6, subfamily C, member 3 1.236
NUDT14 nudix (nucleoside diphosphate linked moiety X)-type motif 14 1.234
PRKG2 protein kinase, cGMP-dependent, type II 1.23
GUCA2A guanylate cyclase activator 2A (guanylin) 1.228
CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae) 1.226
F9 coagulation factor IX 1.222
HPS6 Hermansky-Pudlak syndrome 6 1.218
VSX1 visual system homeobox 1 1.214
SEL1L sel-1 suppressor of lin-12-like (C. elegans) 1.198
MKS1 Meckel syndrome, type 1 1.197
PCDH15 protocadherin-related 15 1.194
RGR retinal G protein coupled receptor 1.188
SYVN1 synovial apoptosis inhibitor 1, synoviolin 1.187
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 1.187
GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 1.185
MAB21L2 mab-21-like 2 (C. elegans) 1.185
CREB3L3 cAMP responsive element binding protein 3-like 3 1.185
RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase 1.183
NPHP1 nephronophthisis 1 (juvenile) 1.18
GJB2 gap junction protein, beta 2, 26kDa 1.178
COL18A1 collagen, type XVIII, alpha 1 1.173
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 1.172
GNB5 guanine nucleotide binding protein (G protein), beta 5 1.168
VAX2 ventral anterior homeobox 2 1.167
CALML4 calmodulin-like 4 1.163
CALML6 calmodulin-like 6 1.163
STUM stum, mechanosensory transduction mediator homolog 1.163
CALML3 calmodulin-like 3 1.16
CALML5 calmodulin-like 5 1.16
THRB thyroid hormone receptor, beta 1.159
GDNF glial cell derived neurotrophic factor 1.159
PDE5A phosphodiesterase 5A, cGMP-specific 1.153
TMEM150C transmembrane protein 150C 1.141
DIO2 deiodinase, iodothyronine, type II 1.141
PDZD7 PDZ domain containing 7 1.138
EDEM1 ER degradation enhancer, mannosidase alpha-like 1 1.137
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 1.133
BBS9 Bardet-Biedl syndrome 9 1.133
IFT172 intraflagellar transport 172 1.132
GJA10 gap junction protein, alpha 10, 62kDa 1.123
ZNF513 zinc finger protein 513 1.117
TYRP1 tyrosinase-related protein 1 1.112
TMEM98 transmembrane protein 98 1.11
DERL1 derlin 1 1.103
FAM237B family with sequence similarity 237 member B 1.101
OXCT1 3-oxoacid CoA transferase 1 1.1
OFD1 oral-facial-digital syndrome 1 1.099
GUF1 GUF1 GTPase homolog (S. cerevisiae) 1.097
BDNF brain-derived neurotrophic factor 1.092
CDH15 cadherin 15, type 1, M-cadherin (myotubule) 1.092
RP1 retinitis pigmentosa 1 (autosomal dominant) 1.088
RORB RAR-related orphan receptor B 1.086
TEX28 testis expressed 28 1.084
NBAS neuroblastoma amplified sequence 1.083
ZPR1 ZPR1 zinc finger 1.074
PRKG1 protein kinase, cGMP-dependent, type I 1.071
PDIA5 protein disulfide isomerase family A, member 5 1.071
TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 1.07
SIX6 SIX homeobox 6 1.067
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.066
RABAC1 Rab acceptor 1 (prenylated) 1.064
PDCL3 phosducin-like 3 1.061
SMAD9 SMAD family member 9 1.055
CAPN5 calpain 5 1.053
CAPN15 calpain 15 1.051
SRD5A3 steroid 5 alpha-reductase 3 1.046
ZNF408 zinc finger protein 408 1.043
COL4A5 collagen, type IV, alpha 5 1.025
ARMS2 age-related maculopathy susceptibility 2 1.023
PPT1 palmitoyl-protein thioesterase 1 1.02
DERL3 derlin 3 1.02
ATOH7 atonal homolog 7 (Drosophila) 1.019
COL9A3 collagen, type IX, alpha 3 1.015
GET1 guided entry of tail-anchored proteins factor 1 1.013
OR10A2 olfactory receptor, family 10, subfamily A, member 2 1.013
SEL1L3 sel-1 suppressor of lin-12-like 3 (C. elegans) 1.012
RPGRIP1L RPGRIP1-like 1.008
PRSS56 protease, serine, 56 1.007