congenital stationary night blindness Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (Human Disease Ontology, DOID_0050534)
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Genes

65 genes co-occuring with the disease congenital stationary night blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
NYX nyctalopin 3.34453
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 3.00426
GRM6 glutamate receptor, metabotropic 6 2.70509
TRPM1 transient receptor potential cation channel, subfamily M, member 1 2.6756
CABP4 calcium binding protein 4 2.32413
GPR179 G protein-coupled receptor 179 2.30863
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 1.89082
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 1.83636
RHO rhodopsin 1.64532
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 1.58403
GRK1 G protein-coupled receptor kinase 1 1.44738
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 1.30095
MTMR10 myotubularin related protein 10 1.22388
OTUD7A OTU deubiquitinase 7A 1.21565
SDK2 sidekick cell adhesion molecule 2 1.20007
GPR34 G protein-coupled receptor 34 1.0753
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.04966
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1.02988
CDK16 cyclin-dependent kinase 16 0.991065
SDK1 sidekick cell adhesion molecule 1 0.991065
USP11 ubiquitin specific peptidase 11 0.987693
RPGR retinitis pigmentosa GTPase regulator 0.983479
ZNF41 zinc finger protein 41 0.964148
ZNF81 zinc finger protein 81 0.912257
GK glycerol kinase 0.912257
NDP Norrie disease (pseudoglioma) 0.899924
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) 0.865502
RP2 retinitis pigmentosa 2 (X-linked recessive) 0.761862
SYNJ1 synaptojanin 1 0.761047
RPE65 retinal pigment epithelium-specific protein 65kDa 0.756156
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.743141
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 0.725716
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.703938
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.701124
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 0.686291
PRPF3 pre-mRNA processing factor 3 0.685491
PRPF8 pre-mRNA processing factor 8 0.681096
BMP8B bone morphogenetic protein 8b 0.67312
STRA6 stimulated by retinoic acid 6 0.652484
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.650113
CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 0.647743
EYS eyes shut homolog (Drosophila) 0.628065
SPTBN1 spectrin, beta, non-erythrocytic 1 0.605762
SGPL1 sphingosine-1-phosphate lyase 1 0.568386
BSN bassoon presynaptic cytomatrix protein 0.564889
MYBPC1 myosin binding protein C, slow type 0.563335
CNGB3 cyclic nucleotide gated channel beta 3 0.53928
TULP1 tubby like protein 1 0.52536
CNGA3 cyclic nucleotide gated channel alpha 3 0.504207
SOX3 SRY (sex determining region Y)-box 3 0.493503
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.467306
OPN4 opsin 4 0.45447
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 0.43753
HTN3 histatin 3 0.391885
SAG S-antigen; retina and pineal gland (arrestin) 0.388538
OCA2 oculocutaneous albinism II 0.355604
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.344207
KNTC1 kinetochore associated 1 0.332121
MAOB monoamine oxidase B 0.323002
GDF5 growth differentiation factor 5 0.316819
CDR1 cerebellar degeneration-related protein 1, 34kDa 0.308118
CRX cone-rod homeobox 0.264785
ADRB3 adrenoceptor beta 3 0.250311
IDUA iduronidase, alpha-L- 0.240148
RBP3 retinol binding protein 3, interstitial 0.170299