IMP
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Homo sapiens
8 genes annotated in human
congenital stationary night blindness
DOID:0050534
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.
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In addition to gene-name show these genes:
Click on a gene's description to view its network relationships with genes known to be involved in "congenital stationary night blindness"
| Name | Description | Probability | Func Analog Organism | |
|---|---|---|---|---|
| FCN2 | ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) | 0.320 | ||
| PDE6G | phosphodiesterase 6G, cGMP-specific, rod, gamma | 0.259 | ||
| KCNJ5 | potassium inwardly-rectifying channel, subfamily J, member 5 | 0.240 | ||
| GJD2 | gap junction protein, delta 2, 36kDa | 0.206 | ||
| AQP6 | aquaporin 6, kidney specific | 0.164 | ||
| KRT9 | keratin 9 | 0.130 | ||
| SAG | S-antigen; retina and pineal gland (arrestin) | 0.118 | ||
| NPY2R | neuropeptide Y receptor Y2 | 0.093 | ||
| GAD2 | glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) | 0.082 | ||
| MADCAM1 | mucosal vascular addressin cell adhesion molecule 1 | 0.070 | ||
| FOXN1 | forkhead box N1 | 0.068 | ||
| PSG2 | pregnancy specific beta-1-glycoprotein 2 | 0.059 | ||
| GPR3 | G protein-coupled receptor 3 | 0.059 | ||
| FGF4 | fibroblast growth factor 4 | 0.058 | ||
| CRHR2 | corticotropin releasing hormone receptor 2 | 0.056 | ||
| ARR3 | arrestin 3, retinal (X-arrestin) | 0.056 | ||
| CACNA1F | calcium channel, voltage-dependent, L type, alpha 1F subunit | 0.054 | ||
| CRYBA4 | crystallin, beta A4 | 0.053 | ||
| GPR6 | G protein-coupled receptor 6 | 0.050 | ||
| TBX10 | T-box 10 | 0.048 | ||
| CEACAM3 | carcinoembryonic antigen-related cell adhesion molecule 3 | 0.047 | ||
| MAPK15 | mitogen-activated protein kinase 15 | 0.044 | ||
| ENPP7 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | 0.041 | ||
| IL9R | interleukin 9 receptor | 0.038 | ||
| SLC22A12 | solute carrier family 22 (organic anion/urate transporter), member 12 | 0.036 | ||
| ZIC4 | Zic family member 4 | 0.035 | ||
| NKX6-3 | NK6 homeobox 3 | 0.034 | ||
| CABP4 | calcium binding protein 4 | 0.033 | ||
| EMX1 | empty spiracles homeobox 1 | 0.032 | ||
| OPRL1 | opiate receptor-like 1 | 0.031 | ||
| CTAG2 | cancer/testis antigen 2 | 0.028 | ||
| ELSPBP1 | epididymal sperm binding protein 1 | 0.028 | ||
| SOX3 | SRY (sex determining region Y)-box 3 | 0.027 | ||
| OR3A3 | olfactory receptor, family 3, subfamily A, member 3 | 0.027 | ||
| ADARB2 | adenosine deaminase, RNA-specific, B2 | 0.025 | ||
| CNR2 | cannabinoid receptor 2 (macrophage) | 0.025 | ||
| NCR2 | natural cytotoxicity triggering receptor 2 | 0.023 | ||
| P2RX2 | purinergic receptor P2X, ligand-gated ion channel, 2 | 0.022 | ||
| CLCNKB | chloride channel Kb | 0.022 | ||
| GNAT2 | guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 | 0.021 | Human | |
| CSHL1 | chorionic somatomammotropin hormone-like 1 | 0.021 | ||
| RXFP3 | relaxin/insulin-like family peptide receptor 3 | 0.020 | ||
| CARD14 | caspase recruitment domain family, member 14 | 0.020 | ||
| C15orf2 | chromosome 15 open reading frame 2 | 0.019 | ||
| AIPL1 | aryl hydrocarbon receptor interacting protein-like 1 | 0.019 | ||
| CCDC155 | coiled-coil domain containing 155 | 0.019 | ||
| RFPL3 | ret finger protein-like 3 | 0.019 | ||
| AVPR1B | arginine vasopressin receptor 1B | 0.018 | ||
| RCVRN | recoverin | 0.018 | ||
| KLK3 | kallikrein-related peptidase 3 | 0.018 | ||
| KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | 0.017 | ||
| CD207 | CD207 molecule, langerin | 0.017 | ||
| SLC45A2 | solute carrier family 45, member 2 | 0.017 | ||
| GRIA4 | glutamate receptor, ionotrophic, AMPA 4 | 0.017 | ||
| CYP2A6 | cytochrome P450, family 2, subfamily A, polypeptide 6 | 0.017 | ||
| GUCA1A | guanylate cyclase activator 1A (retina) | 0.017 | ||
| SLC4A1 | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) | 0.017 | ||
| GUCA1B | guanylate cyclase activator 1B (retina) | 0.016 | ||
| FCER2 | Fc fragment of IgE, low affinity II, receptor for (CD23) | 0.016 | ||
| ZAN | zonadhesin | 0.016 | ||
| ACRV1 | acrosomal vesicle protein 1 | 0.016 | ||
| CRYBB1 | crystallin, beta B1 | 0.016 | ||
| CD80 | CD80 molecule | 0.016 | ||
| ROM1 | retinal outer segment membrane protein 1 | 0.016 | ||
| EFNA2 | ephrin-A2 | 0.015 | ||
| MAGEC2 | melanoma antigen family C, 2 | 0.015 | ||
| SLC14A2 | solute carrier family 14 (urea transporter), member 2 | 0.015 | ||
| OR1E2 | olfactory receptor, family 1, subfamily E, member 2 | 0.015 | ||
| BTN1A1 | butyrophilin, subfamily 1, member A1 | 0.015 | ||
| C10orf95 | chromosome 10 open reading frame 95 | 0.015 | ||
| FAM5B | family with sequence similarity 5, member B | 0.015 | ||
| HAND1 | heart and neural crest derivatives expressed 1 | 0.015 | ||
| LRTM1 | leucine-rich repeats and transmembrane domains 1 | 0.015 | ||
| RTDR1 | rhabdoid tumor deletion region gene 1 | 0.014 | ||
| ACSM1 | acyl-CoA synthetase medium-chain family member 1 | 0.014 | ||
| CCDC38 | coiled-coil domain containing 38 | 0.014 | ||
| PAGE1 | P antigen family, member 1 (prostate associated) | 0.014 | ||
| GALR3 | galanin receptor 3 | 0.014 | ||
| MYL10 | myosin, light chain 10, regulatory | 0.014 | ||
| SLC1A7 | solute carrier family 1 (glutamate transporter), member 7 | 0.014 | ||
| ERN2 | endoplasmic reticulum to nucleus signaling 2 | 0.014 | ||
| KLK2 | kallikrein-related peptidase 2 | 0.014 | ||
| CHRNA9 | cholinergic receptor, nicotinic, alpha 9 | 0.014 | ||
| CALCA | calcitonin-related polypeptide alpha | 0.013 | ||
| MFSD6L | major facilitator superfamily domain containing 6-like | 0.013 | ||
| TNFRSF13C | tumor necrosis factor receptor superfamily, member 13C | 0.013 | ||
| CTRC | chymotrypsin C (caldecrin) | 0.013 | ||
| CRP | C-reactive protein, pentraxin-related | 0.013 | ||
| CYP1A2 | cytochrome P450, family 1, subfamily A, polypeptide 2 | 0.013 | ||
| OPN1SW | opsin 1 (cone pigments), short-wave-sensitive | 0.013 | Human | |
| RDH8 | retinol dehydrogenase 8 (all-trans) | 0.013 | ||
| LCT | lactase | 0.013 | ||
| MYT1 | myelin transcription factor 1 | 0.013 | ||
| C2orf51 | chromosome 2 open reading frame 51 | 0.013 | ||
| PTGER1 | prostaglandin E receptor 1 (subtype EP1), 42kDa | 0.013 | ||
| LHX3 | LIM homeobox 3 | 0.012 | ||
| RAB3IL1 | RAB3A interacting protein (rabin3)-like 1 | 0.012 | ||
| GHRHR | growth hormone releasing hormone receptor | 0.012 | ||
| HTR3A | 5-hydroxytryptamine (serotonin) receptor 3A | 0.012 | ||
| AFM | afamin | 0.012 | ||
| SLC12A3 | solute carrier family 12 (sodium/chloride transporters), member 3 | 0.012 | ||
| OR1G1 | olfactory receptor, family 1, subfamily G, member 1 | 0.012 | ||
| CHRNA2 | cholinergic receptor, nicotinic, alpha 2 (neuronal) | 0.012 | ||
| PRAMEF12 | PRAME family member 12 | 0.012 | ||
| BTNL3 | butyrophilin-like 3 | 0.012 | ||
| GH2 | growth hormone 2 | 0.012 | ||
| NR5A1 | nuclear receptor subfamily 5, group A, member 1 | 0.012 | ||
| SFTPB | surfactant protein B | 0.012 | ||
| MSI1 | musashi homolog 1 (Drosophila) | 0.012 | ||
| SLC26A1 | solute carrier family 26 (sulfate transporter), member 1 | 0.011 | ||
| RTBDN | retbindin | 0.011 | ||
| SLC5A5 | solute carrier family 5 (sodium iodide symporter), member 5 | 0.011 | ||
| UNC119 | unc-119 homolog (C. elegans) | 0.011 | ||
| TH | tyrosine hydroxylase | 0.011 | ||
| GPR182 | G protein-coupled receptor 182 | 0.011 | ||
| HSF2BP | heat shock transcription factor 2 binding protein | 0.011 | ||
| SARDH | sarcosine dehydrogenase | 0.011 | ||
| SLC6A2 | solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 | 0.011 | ||
| RBP3 | retinol binding protein 3, interstitial | 0.011 | ||
| KRT2 | keratin 2 | 0.011 | ||
| TEX13B | testis expressed 13B | 0.011 | ||
| NEUROD2 | neurogenic differentiation 2 | 0.011 | ||
| CYLC1 | cylicin, basic protein of sperm head cytoskeleton 1 | 0.011 | ||
| SLC7A4 | solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 | 0.011 | ||
| NYX | nyctalopin | 0.011 | ||
| ALPPL2 | alkaline phosphatase, placental-like 2 | 0.011 | ||
| HNF1B | HNF1 homeobox B | 0.011 | ||
| DUSP13 | dual specificity phosphatase 13 | 0.010 | ||
| TRPV5 | transient receptor potential cation channel, subfamily V, member 5 | 0.010 | ||
| LIM2 | lens intrinsic membrane protein 2, 19kDa | 0.010 | ||
| MC4R | melanocortin 4 receptor | 0.010 | ||
| GABRA4 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | 0.010 | ||
| TLX2 | T-cell leukemia homeobox 2 | 0.010 | ||
| MAGEB4 | melanoma antigen family B, 4 | 0.010 | ||
| GNAT1 | guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 | 0.006 | ||
| RHO | rhodopsin | 0.006 | ||
| PDE6B | phosphodiesterase 6B, cGMP-specific, rod, beta | 0.004 | ||
| TRPM1 | transient receptor potential cation channel, subfamily M, member 1 | 0.003 | ||
| GRM6 | glutamate receptor, metabotropic 6 | 0.002 |