achromatopsia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
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Genes

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

Symbol Name Standardized Value
CNGA3 cyclic nucleotide gated channel alpha 3 3.44215
CNGB3 cyclic nucleotide gated channel beta 3 3.36951
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 2.70509
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 2.30759
TEX28P2 testis expressed 28 pseudogene 2 1.29964
TEX28 testis expressed 28 1.29964
SLC38A8 solute carrier family 38, member 8 1.29877
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.26952
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 1.19704
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.191
FRMD7 FERM domain containing 7 1.14263
NYX nyctalopin 1.13966
NRL neural retina leucine zipper 1.03156
BACE1 beta-site APP-cleaving enzyme 1 1.00372
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 0.99465
PAX6 paired box 6 0.975482
RPE65 retinal pigment epithelium-specific protein 65kDa 0.97086
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 0.94078
RGR retinal G protein coupled receptor 0.922974
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 0.894794
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 0.870006
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 0.850354
RHO rhodopsin 0.835607
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 0.833558
CNGB1 cyclic nucleotide gated channel beta 1 0.808129
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 0.785165
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 0.754934
ARR3 arrestin 3, retinal (X-arrestin) 0.739082
XG Xg blood group 0.682693
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 0.656046
GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 0.621792
CNTF ciliary neurotrophic factor 0.597571
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 0.591727
TULP1 tubby like protein 1 0.576939
RD3 retinal degeneration 3 0.568775
PRPH2 peripherin 2 (retinal degeneration, slow) 0.566443
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 0.564889
MFRP membrane frizzled-related protein 0.552851
TUB tubby bipartite transcription factor 0.540829
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.538506
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.517649
HRH2 histamine receptor H2 0.51534
OPN4 opsin 4 0.504973
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 0.487788
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 0.464283
ENDOG endonuclease G 0.456732
SOX3 SRY (sex determining region Y)-box 3 0.432082
ATXN7 ataxin 7 0.418394
HSPA9 heat shock 70kDa protein 9 (mortalin) 0.399334
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.399334
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.385936
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 0.366301
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.348246
FOXC1 forkhead box C1 0.347879
CDR1 cerebellar degeneration-related protein 1, 34kDa 0.339623
PITX2 paired-like homeodomain 2 0.322637
CRX cone-rod homeobox 0.312102
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 0.265849
CASP7 caspase 7, apoptosis-related cysteine peptidase 0.243645
RBP3 retinol binding protein 3, interstitial 0.209918
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.20658
GLB1 galactosidase, beta 1 0.146476