MCID: CNG010
MIFTS: 56

Congenital Stationary Night Blindness

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Congenital Stationary Night Blindness

MalaCards integrated aliases for Congenital Stationary Night Blindness:

Name: Congenital Stationary Night Blindness 12 55 36 28 28 14
Night Blindness, Congenital Stationary 72 51 69
Congenital Essential Nyctalopia 12 55
Oguchi Disease 41 69

Characteristics:

Orphanet epidemiological data:

55
congenital stationary night blindness
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050534
ICD10 32 H53.63
ICD9CM 34 368.61
MeSH 41 C537743
Orphanet 55 ORPHA215
MESH via Orphanet 42 C536122
UMLS via Orphanet 70 C0339535
ICD10 via Orphanet 33 H53.6
KEGG 36 H00787

Summaries for Congenital Stationary Night Blindness

Disease Ontology : 12 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.

MalaCards based summary : Congenital Stationary Night Blindness, also known as night blindness, congenital stationary, is related to x-linked congenital stationary night blindness and autosomal dominant congenital stationary night blindness, and has symptoms including nyctalopia, reduced visual acuity and optic disc hypoplasia. An important gene associated with Congenital Stationary Night Blindness is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways/superpathways are Phototransduction and MAPK signaling pathway. The drugs B-Carotene and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 72 X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal... more...

Related Diseases for Congenital Stationary Night Blindness

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

Diseases related to Congenital Stationary Night Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 35.1 CACNA1F NLRP12 NYX
2 autosomal dominant congenital stationary night blindness 34.9 GNAT1 PDE6B RHO
3 autosomal recessive congenital stationary night blindness 34.9 GNAT1 GNB3 GRM6 SLC24A1
4 night blindness, congenital stationary, type 2a 34.3 CACNA1F NYX
5 night blindness, congenital stationary, type 1b 34.2 GPR179 GRM6 LRIT3 NYX TRPM1
6 night blindness, congenital stationary, type 1e 34.2 CACNA1F GPR179 NLRP12 NYX
7 hereditary night blindness 33.3 CACNA1F GRK1 GRM6 NYX RDH5 RHO
8 myopia 31.5 CACNA1F GNAT1 GRM6 NYX RHO
9 night blindness 31.3 CABP4 CACNA1F GNAT1 GNB3 GPR179 GRK1
10 aland island eye disease 31.0 CACNA1F NYX RPE65
11 retinoschisis 1, x-linked, juvenile 30.9 CACNA1F NYX RPE65
12 stargardt disease 30.8 ABCA4 RHO RPE65
13 retinitis pigmentosa 30.3 ABCA4 CACNA1F CACNA2D4 GNAT1 GRK1 NYX
14 night blindness, congenital stationary, type 1a 12.4
15 night blindness, congenital stationary, type 1d 12.1
16 oguchi disease 1 12.1
17 night blindness, congenital stationary, type 1f 12.1
18 night blindness, congenital stationary, type 1h 12.0
19 night blindness, congenital stationary, autosomal dominant 2 12.0
20 night blindness, congenital stationary, autosomal dominant 3 12.0
21 night blindness, congenital stationary, autosomal dominant 1 12.0
22 night blindness, congenital stationary, type 1c 12.0
23 night blindness, congenital stationary, type 1g 12.0
24 oguchi disease 2 11.9
25 cone-rod synaptic disorder, congenital nonprogressive 11.4
26 nystagmus 1, congenital, x-linked 11.1
27 melanoma-associated retinopathy 10.6 RHO SAG TRPM1
28 scotoma 10.6 ABCA4 RDH5 TRPM1
29 severe early-childhood-onset retinal dystrophy 10.6 ABCA4 RPE65
30 cone-rod dystrophy 3 10.6 ABCA4 CACNA1F
31 achromatopsia 3 10.6 CACNA1F NYX RPE65
32 red-green color blindness 10.6 ABCA4 RHO RPE65
33 usher syndrome, type iid 10.5 CACNA1D GRK1 RHO
34 stargardt macular degeneration 10.5 ABCA4 RHO
35 rhyns syndrome 10.5 ABCA4 PDE6B RHO RPE65
36 degeneration of macula and posterior pole 10.5 ABCA4 RHO RPE65
37 retinitis pigmentosa 19 10.5 ABCA4 PDE6B
38 retinitis 10.5
39 cone-rod dystrophy 2 10.5 ABCA4 CACNA1F RHO RPE65
40 yemenite deaf-blind hypopigmentation syndrome 10.5 ABCA4 RPE65
41 pineocytoma 10.5 RHO SAG
42 fundus dystrophy 10.4 ABCA4 RDH5 RHO RPE65
43 retinitis pigmentosa 43 10.4 PDE6B RHO
44 macular degeneration, age-related, 1 10.4 ABCA4 PDE6B RHO RPE65
45 retinal degeneration 10.4 ABCA4 PDE6B RHO RPE65 SAG
46 leber congenital amaurosis 10.3 ABCA4 CABP4 GRK1 PDE6B RHO RPE65
47 bardet-biedl syndrome 5 10.3 RHO SAG
48 leber congenital amaurosis 4 10.3
49 fundus albipunctatus 10.2 CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO
50 muscular dystrophy, duchenne type 10.2

Graphical network of the top 20 diseases related to Congenital Stationary Night Blindness:



Diseases related to Congenital Stationary Night Blindness

Symptoms & Phenotypes for Congenital Stationary Night Blindness

Human phenotypes related to Congenital Stationary Night Blindness:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nyctalopia 55 31 frequent (33%) Frequent (79-30%) HP:0000662
2 reduced visual acuity 55 31 frequent (33%) Frequent (79-30%) HP:0007663
3 optic disc hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0007766
4 abnormality of macular pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0008002
5 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
6 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
7 abnormality of the retina 55 Very frequent (99-80%)
8 abnormality of the fundus 55 Frequent (79-30%)
9 severe myopia 55 Frequent (79-30%)
10 high myopia 31 frequent (33%) HP:0011003

GenomeRNAi Phenotypes related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 GNAT1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.55 GNAT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.55 GNAT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.55 PDE6B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.55 PDE6B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.55 CACNA2D4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.55 GNAT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.55 CACNA2D4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.55 GNAT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.55 PDE6B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.55 CACNA2D4 GNAT1 PDE6B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.55 PDE6B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.55 GNAT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.55 CACNA2D4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.55 PDE6B

MGI Mouse Phenotypes related to Congenital Stationary Night Blindness:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 ABCA4 CABP4 CACNA1D CACNA1F GNAT1 GNB3
2 vision/eye MP:0005391 9.58 RPE65 SAG SLC24A1 TRPM1 ABCA4 CABP4
3 pigmentation MP:0001186 9.35 ABCA4 GNAT1 PDE6B RHO RPE65

Drugs & Therapeutics for Congenital Stationary Night Blindness

Drugs for Congenital Stationary Night Blindness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
B-Carotene Approved, Nutraceutical 7235-40-7 5280489
2 Antioxidants
3 Carotenoids
4 Micronutrients
5 Protective Agents
6 Trace Elements
7 Vitamins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
2 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
3 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Congenital Stationary Night Blindness

Cochrane evidence based reviews: oguchi disease

Genetic Tests for Congenital Stationary Night Blindness

Genetic tests related to Congenital Stationary Night Blindness:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness 28

Anatomical Context for Congenital Stationary Night Blindness

MalaCards organs/tissues related to Congenital Stationary Night Blindness:

38
Eye, Retina, Skeletal Muscle

Publications for Congenital Stationary Night Blindness

Articles related to Congenital Stationary Night Blindness:

(show top 50) (show all 183)
# Title Authors Year
1
Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). ( 29179637 )
2018
2
Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness. ( 28512427 )
2017
3
Structural role of the T94I rhodopsin mutation in congenital stationary night blindness. ( 27458239 )
2016
4
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. ( 27063057 )
2016
5
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. ( 26822852 )
2016
6
Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics. ( 27267879 )
2016
7
Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness. ( 27803854 )
2016
8
Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. ( 27428514 )
2016
9
Clinical Characteristics, Mutation Spectrum, and Prevalence of A8land Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. ( 28002560 )
2016
10
Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness. ( 27601873 )
2016
11
Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer. ( 27084085 )
2016
12
Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness. ( 27329127 )
2016
13
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. ( 26628857 )
2015
14
Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness. ( 26241901 )
2015
15
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness. ( 26234941 )
2015
16
Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness. ( 26310623 )
2015
17
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. ( 26368928 )
2015
18
Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness. ( 25748727 )
2015
19
Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort. ( 24715752 )
2014
20
Congenital stationary night blindness: An analysis and update of genotype-phenotype correlations and pathogenic mechanisms. ( 25307992 )
2014
21
Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. ( 24466230 )
2014
22
A truncated form of rod photoreceptor PDE6 I^-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the I^-subunit. ( 24760071 )
2014
23
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). ( 24598786 )
2014
24
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. ( 24796500 )
2014
25
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. ( 24397708 )
2014
26
Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness. ( 23966763 )
2013
27
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. ( 24167615 )
2013
28
Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness. ( 23296619 )
2013
29
Photoreceptor and postreceptor responses in congenital stationary night blindness. ( 23761088 )
2013
30
Assessment of night vision problems in patients with congenital stationary night blindness. ( 23658786 )
2013
31
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. ( 23714322 )
2013
32
Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation. ( 23289809 )
2013
33
CABP4 Mutations Do Not Cause Congenital Stationary Night Blindness. ( 24332535 )
2013
34
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. ( 23246293 )
2013
35
Dysregulation of Cav 1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. ( 24064553 )
2013
36
Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2. ( 24051672 )
2013
37
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin. ( 23579341 )
2013
38
Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness. ( 24222301 )
2013
39
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. ( 21920492 )
2012
40
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. ( 22008250 )
2012
41
Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. ( 22051042 )
2012
42
Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation. ( 22800190 )
2012
43
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. ( 22325361 )
2012
44
Retinal horizontal cells reduced in a rat model of congenital stationary night blindness. ( 22634626 )
2012
45
Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. ( 22735794 )
2012
46
Structural, energetic, and mechanical perturbations in rhodopsin mutant that causes congenital stationary night blindness. ( 22549882 )
2012
47
GNAT1 associated with autosomal recessive congenital stationary night blindness. ( 22190596 )
2012
48
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. ( 22959359 )
2012
49
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. ( 22325362 )
2012
50
Congenital stationary night blindness: mutation update and clinical variability. ( 22183355 )
2012

Variations for Congenital Stationary Night Blindness

ClinVar genetic disease variations for Congenital Stationary Night Blindness:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1F NM_005183.3(CACNA1F): c.2905C> T (p.Arg969Ter) single nucleotide variant Pathogenic rs122456134 GRCh37 Chromosome X, 49074970: 49074970
2 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh37 Chromosome 2, 234243727: 234243727
3 GPR179 NM_001004334.3(GPR179): c.984delC (p.Ser329Leufs) deletion Pathogenic/Likely pathogenic rs770066665 GRCh37 Chromosome 17, 36493523: 36493523
4 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh37 Chromosome 2, 234237188: 234237188
5 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh37 Chromosome 2, 234243675: 234243675
6 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh37 Chromosome 2, 234243717: 234243717
7 SAG NM_000541.4(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh37 Chromosome 2, 234237134: 234237134
8 GRM6 NM_000843.3(GRM6): c.137C> T (p.Pro46Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62638197 GRCh37 Chromosome 5, 178421809: 178421809
9 ABCA4 NM_000350.2(ABCA4): c.3259G> T (p.Glu1087Ter) single nucleotide variant Pathogenic rs61751398 GRCh38 Chromosome 1, 94042830: 94042830
10 GRM6 NM_000843.3(GRM6): c.577delG (p.Val193Trpfs) deletion Pathogenic rs781463257 GRCh38 Chromosome 5, 178992011: 178992011
11 CACNA1F NM_005183.3(CACNA1F): c.1218delC (p.Trp407Glyfs) deletion Pathogenic GRCh37 Chromosome X, 49083490: 49083490

Expression for Congenital Stationary Night Blindness

Search GEO for disease gene expression data for Congenital Stationary Night Blindness.

Pathways for Congenital Stationary Night Blindness

Pathways related to Congenital Stationary Night Blindness according to KEGG:

36
# Name Kegg Source Accession
1 Phototransduction hsa04744
2 MAPK signaling pathway hsa04010
3 Calcium signaling pathway hsa04020
4 Neuroactive ligand-receptor interaction hsa04080
5 Glutamatergic synapse hsa04724

Pathways related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 CACNA1D CACNA1F CACNA2D4 GNAT1 GNB3 GRM6
2
Show member pathways
12.71 CACNA1D CACNA1F CACNA2D4 GNAT1 GNB3 GRM6
3
Show member pathways
12.65 CACNA1D CACNA1F CACNA2D4 GNB3 GRK1
4
Show member pathways
12.14 ABCA4 GNAT1 GRK1 PDE6B RDH5 RHO
5
Show member pathways
11.83 CACNA1D CACNA1F CACNA2D4
6
Show member pathways
11.8 GNAT1 GNB3 GRK1 PDE6B RDH5 RHO
7 11.74 CACNA1D CACNA1F GNB3
8 11.52 CACNA1D CACNA1F CACNA2D4
9
Show member pathways
11.46 CACNA1D CACNA1F CACNA2D4
10
Show member pathways
11.3 ABCA4 RDH5 RHO RPE65
11 11.26 CACNA1D CACNA1F CACNA2D4
12 11.16 CACNA1D CACNA1F CACNA2D4 GNB3
13
Show member pathways
10.87 CACNA1D CACNA1F
14 10.64 CABP4 GNAT1 GRK1 PDE6B RDH5 RHO

GO Terms for Congenital Stationary Night Blindness

Cellular components related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 9.54 GNB3 RDH5 RPE65
2 photoreceptor inner segment GO:0001917 9.5 GNAT1 RHO SAG
3 voltage-gated calcium channel complex GO:0005891 9.43 CACNA1D CACNA1F CACNA2D4
4 photoreceptor outer segment membrane GO:0042622 9.4 GNAT1 RHO
5 photoreceptor outer segment GO:0001750 9.35 ABCA4 CACNA1F GNAT1 RHO SAG
6 new growing cell tip GO:0035841 9.16 GRM6 TRPM1
7 photoreceptor disc membrane GO:0097381 9.02 ABCA4 GNAT1 GRK1 PDE6B RHO
8 membrane GO:0016020 10.33 ABCA4 CACNA1D CACNA1F CACNA2D4 GNAT1 GPR179
9 plasma membrane GO:0005886 10.21 CACNA1D CACNA1F CACNA2D4 GNAT1 GNB3 GPR179

Biological processes related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.86 ABCA4 CABP4 CACNA1F GNAT1 GPR179 GRK1
2 calcium ion transport GO:0006816 9.84 CACNA1D CACNA1F CACNA2D4 SLC24A1
3 calcium ion transmembrane transport GO:0070588 9.83 CACNA1D CACNA1F CACNA2D4 SLC24A1 TRPM1
4 retina development in camera-type eye GO:0060041 9.8 GNAT1 GRM6 PDE6B RHO RPE65
5 retinoid metabolic process GO:0001523 9.76 ABCA4 RDH5 RHO RPE65
6 cardiac conduction GO:0061337 9.73 CACNA1D CACNA1F CACNA2D4
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.72 GNAT1 GRK1 PDE6B RHO SAG
8 phototransduction GO:0007602 9.69 CABP4 GNAT1 RHO
9 phototransduction, visible light GO:0007603 9.67 ABCA4 GNAT1 PDE6B RHO
10 response to light stimulus GO:0009416 9.65 GNAT1 RHO RPE65
11 detection of light stimulus involved in visual perception GO:0050908 9.65 CACNA1F CACNA2D4 GNAT1 GRM6 RPE65
12 cellular response to electrical stimulus GO:0071257 9.59 GNAT1 RPE65
13 sensory perception of light stimulus GO:0050953 9.58 GRM6 RHO
14 G-protein coupled glutamate receptor signaling pathway GO:0007216 9.58 GRM6 TRPM1
15 response to light intensity GO:0009642 9.57 GNAT1 SLC24A1
16 cellular response to light stimulus GO:0071482 9.55 RHO TRPM1
17 rhodopsin mediated signaling pathway GO:0016056 9.55 GNAT1 GRK1 PDE6B RHO SAG
18 detection of light stimulus GO:0009583 9.52 PDE6B RHO
19 response to stimulus GO:0050896 9.47 ABCA4 CACNA1F GNAT1 GRK1 GRM6 LRIT3
20 signal transduction GO:0007165 10.19 CABP4 GNAT1 GNB3 GRK1 GRM6 NLRP12
21 ion transport GO:0006811 10 CACNA1D CACNA1F CACNA2D4 SLC24A1 TRPM1
22 transmembrane transport GO:0055085 10 ABCA4 CACNA1D CACNA1F SLC24A1 TRPM1

Molecular functions related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 high voltage-gated calcium channel activity GO:0008331 9.16 CACNA1D CACNA1F
2 voltage-gated calcium channel activity GO:0005245 9.13 CACNA1D CACNA1F CACNA2D4
3 calcium channel activity GO:0005262 9.02 CACNA1D CACNA1F CACNA2D4 SLC24A1 TRPM1

Sources for Congenital Stationary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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