Congenital Stationary Night Blindness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Congenital Stationary Night Blindness

MalaCards integrated aliases for Congenital Stationary Night Blindness:

Name: Congenital Stationary Night Blindness ¹¹ ⁵⁸ ²⁸ ⁵ ¹⁴ ⁷⁵

Night Blindness, Congenital Stationary ⁷⁵ ⁵³ ⁷¹

Congenital Essential Nyctalopia ¹¹ ⁵⁸

Oguchi Disease ⁴³ ⁷¹

Blindness, Night, Stationary, Congenital ³⁸

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive ⁵⁸

Age Of Onset:

Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Eye diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Visual disturbances and blindness

Visual disturbances

Night blindness

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:0050534

ICD9CM ³⁴ 368.61

MeSH ⁴³ C537743

SNOMED-CT ⁶⁸ 193687000

MESH via Orphanet ⁴⁴ C536122

ICD10 via Orphanet ³² H53.6

UMLS via Orphanet ⁷² C0339535

Orphanet ⁵⁸ ORPHA215

SNOMED-CT via HPO ⁶⁹ 128602000 13164000 22066006 more

UMLS ⁷¹ C0339535 C1306122

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Summaries for Congenital Stationary Night Blindness

Orphanet: ⁵⁸ Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

MalaCards based summary: Congenital Stationary Night Blindness, also known as night blindness, congenital stationary, is related to night blindness, congenital stationary, type 1a and x-linked congenital stationary night blindness. An important gene associated with Congenital Stationary Night Blindness is NYX (Nyctalopin), and among its related pathways/superpathways are Olfactory Signaling Pathway and CREB Pathway. The drugs Beta carotene and Carotenoids have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle, and related phenotypes are myopia and reduced visual acuity

Disease Ontology: ¹¹ A hereditary 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.

Wikipedia: ⁷⁵ Congenital stationary night blindness (CSNB) is a rare non-progressive retinal disorder. People with... more...

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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 167)

#	Related Disease	Score	Top Affiliating Genes
1	night blindness, congenital stationary, type 1a	34.0	NYX GRM6 GPR179 GNAT1 CACNA1F CABP4
2	x-linked congenital stationary night blindness	33.9	NYX CACNA1F
3	night blindness, congenital stationary, type 1b	33.9	TRPM1 NYX LRIT3 GRM6 GPR179 CABP4
4	night blindness, congenital stationary, type 1e	33.8	NYX GPR179 CACNA1F
5	night blindness, congenital stationary, type 1c	33.7	TRPM1 NYX GPR179 CACNA1F CABP4
6	night blindness, congenital stationary, autosomal dominant 1	33.7	RHO GNAT1 CACNA1F
7	night blindness, congenital stationary, type 2a	33.7	NYX CACNA1F
8	oguchi disease	33.6	SAG RHO RDH5 NYX GRK1 CACNA1F
9	oguchi disease 2	33.5	SAG RHO GRK1 CABP4
10	oguchi disease 1	33.5	SAG RHO GRK1 CABP4
11	autosomal dominant congenital stationary night blindness	33.4	PDE6B GNAT1
12	night blindness	32.9	USH2A TRPM1 SLC24A1 SAG RPGR RHO
13	myopia	32.5	TRPM1 SLC24A1 RPGR RHO RDH5 RBP3
14	retinal disease	32.3	USH2A RPGR RHO PDE6B CACNA1F ABCA4
15	retinitis pigmentosa	32.0	USH2A TRPM1 SLC24A1 SAG RPGR RHO
16	refractive error	31.9	RPGR RHO RDH5 NYX GRM6 GPR179
17	retinitis	31.9	USH2A RPGR RHO PDE6B ABCA4
18	aland island eye disease	31.8	NYX CACNA1F CABP4
19	eye disease	31.8	USH2A TRPM1 SAG RPGR RHO RDH5
20	retinal degeneration	31.7	USH2A SAG RPGR RHO RDH5 RBP3
21	fundus dystrophy	31.7	USH2A TRPM1 SLC24A1 SAG RPGR RHO
22	peripheral retinal degeneration	31.7	RPGR RHO ABCA4
23	cone dystrophy	31.6	USH2A SAG RPGR RHO RDH5 PDE6B
24	progressive cone dystrophy	31.6	RPGR RDH5 PDE6B CACNA2D4 CACNA1F ABCA4
25	cone-rod dystrophy 2	31.5	USH2A TRPM1 SLC24A1 SAG RPGR RHO
26	color blindness	31.4	USH2A RPGR RHO PDE6B GRK1 CACNA1F
27	retinoschisis 1, x-linked, juvenile	31.3	USH2A TRPM1 RPGR RHO PDE6B NYX
28	cone-rod dystrophy, x-linked, 3	31.3	RPGR NYX GRM6 CACNA2D4 CACNA1F CABP4
29	fundus albipunctatus	31.3	USH2A RPGR RHO RDH5 RBP3 PDE6B
30	retinitis pigmentosa 3	31.2	RPGR GRK1 ABCA4
31	achromatopsia	31.1	USH2A RPGR RHO PDE6B NYX GRK1
32	leber plus disease	31.1	USH2A TRPM1 SLC24A1 SAG RPGR RHO
33	leber congenital amaurosis 2	31.1	RPGR RHO
34	blue cone monochromacy	31.1	RPGR NYX CACNA1F ABCA4
35	cone-rod dystrophy 3	31.1	RPGR CACNA1F CABP4 ABCA4
36	late-onset retinal degeneration	31.0	USH2A RPGR RHO PDE6B CACNA2D4 ABCA4
37	stargardt disease	31.0	USH2A RPGR RHO RDH5 RBP3 PDE6B
38	macular degeneration, age-related, 1	31.0	USH2A RPGR RHO RDH5 RBP3 PDE6B
39	hereditary retinal dystrophy	31.0	USH2A RHO ABCA4
40	retinitis pigmentosa 2	31.0	RPGR RHO GRK1
41	scotoma	31.0	USH2A RPGR RHO ABCA4
42	retinitis pigmentosa 47	30.7	SAG GNAT1
43	night blindness, congenital stationary, type 1d	12.0
44	night blindness, congenital stationary, type 1h	12.0
45	night blindness, congenital stationary, type 1f	11.9
46	night blindness, congenital stationary, autosomal dominant 2	11.9
47	night blindness, congenital stationary, autosomal dominant 3	11.9
48	autosomal recessive congenital stationary night blindness	11.9
49	night blindness, congenital stationary, type 1g	11.9
50	cone-rod synaptic disorder, congenital nonprogressive	11.4

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

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Symptoms & Phenotypes for Congenital Stationary Night Blindness

Human phenotypes related to Congenital Stationary Night Blindness:

⁵⁸ ³⁰ (show all 15)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	myopia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000545
2	reduced visual acuity ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007663
3	nystagmus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000639
4	strabismus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000486
5	congenital stationary night blindness with normal fundus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0030638
6	congenital stationary night blindness with abnormal fundus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0030639
7	hypermetropia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000540
8	electronegative electroretinogram ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007984
9	reduced amplitude of dark-adapted bright flash electroretinogram a-wave ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030483
10	compensatory head posture ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0031705
11	abnormality of retinal pigmentation ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0007703
12	color vision defect ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0000551
13	retinal thinning ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0030329
14	nyctalopia ⁵⁸		Very frequent (99-80%)
15	abnormal dark-adapted electroretinogram ⁵⁸		Very frequent (99-80%)

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	no effect	GR00402-S-1	10.18	ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3
2	no effect	GR00402-S-2	10.18	ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.8	PDE6B
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-144	9.8	GNAT1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-167	9.8	GNAT1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-198	9.8	CACNA2D4
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	9.8	CACNA2D4
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.8	GNAT1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-215	9.8	CACNA2D4
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.8	CACNA2D4
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-34	9.8	GNAT1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-55	9.8	PDE6B
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.8	GNAT1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-58	9.8	GNAT1 PDE6B
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-89	9.8	CACNA2D4

MGI Mouse Phenotypes related to Congenital Stationary Night Blindness:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.83	ABCA4 CABP4 CACNA1F GNAT1 GNB3 GRK1
2	vision/eye	MP:0005391	9.62	ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3
3	pigmentation	MP:0001186	9.55	ABCA4 GNAT1 PDE6B RHO RPGR

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Drugs & Therapeutics for Congenital Stationary Night Blindness

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

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Beta carotene

Approved, Nutraceutical

6811-73-0, 7235-40-7

10256668 5280489

2

Carotenoids

Interventional clinical trials:

#	Name	Status	NCT ID
1	Visual Activity Evoked by Infrared in Humans After Dark Adaptation	Completed	NCT02909985
2	Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene	Completed	NCT00569023
3	Foundation Fighting Blindness My Retina Tracker Registry	Recruiting	NCT02435940

Search NIH Clinical Center for Congenital Stationary Night Blindness

Cochrane evidence based reviews: oguchi disease

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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

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Anatomical Context for Congenital Stationary Night Blindness

Organs/tissues related to Congenital Stationary Night Blindness:

MalaCards : Eye, Retina, Skeletal Muscle

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Publications for Congenital Stationary Night Blindness

Articles related to Congenital Stationary Night Blindness:

(show top 50) (show all 532)

#	Title	Authors	PMID	Year
1	A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. ⁶² ⁵	Sergouniotis PI...Webster AR	22008250	2012
2	GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. ⁶² ⁵	Peachey NS...Gregg RG	22325362	2012
3	Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. ⁶² ⁵	Audo I...Zeitz C	22325361	2012
4	Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. ⁶² ⁵	Li Z...Webster AR	19878917	2009
5	Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. ⁶² ⁵	Zeitz C...Berger W	16249515	2005
6	A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. ⁶² ⁵	Boycott KM...Bech-Hansen NT	11281458	2001
7	Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. ⁶² ⁵	Bech-Hansen NT...Boycott KM	9662400	1998
8	An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. ⁶² ⁵	Strom TM...Meindl A	9662399	1998
9	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ⁵	Jespersgaard C...Gronskov K	30718709	2019
10	The ABCA4 gene in autosomal recessive cone-rod dystrophies. ⁵	Ducroq D...Kaplan J	12515255	2002
11	Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. ⁵³ ⁶²	Lodha N...Bech-Hansen NT	20238058	2010
12	Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. ⁵³ ⁶²	Beqollari D...Kammermeier PJ	19666700	2009
13	Sequence variations of GRM6 in patients with high myopia. ⁵³ ⁶²	Xu X...Zhang Q	19862333	2009
14	A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. ⁵³ ⁶²	Gu Y...Zhang Z	18246026	2008
15	Attenuation of oscillatory potentials in nob2 mice. ⁵³ ⁶²	Yu M...Peachey NS	17479213	2007
16	Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. ⁵³ ⁶²	Zeitz C...Berger W	17405131	2007
17	A novel CACNA1F gene mutation causes Aland Island eye disease. ⁵³ ⁶²	Jalkanen R...Alitalo T	17525176	2007
18	Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. ⁵³ ⁶²	Tsang SH...Nusinowitz S	17044014	2007
19	Mutations in NYX of individuals with high myopia, but without night blindness. ⁵³ ⁶²	Zhang Q...Hejtmancik JF	17392683	2007
20	X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. ⁵³ ⁶²	Jalkanen R...Bech-Hansen NT	16505158	2006
21	Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. ⁵³ ⁶²	O'Connor E...Trump D	16622103	2006
22	Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick. ⁵³ ⁶²	Bech-Hansen NT...Logan CC	16261423	2005
23	Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. ⁵³ ⁶²	Cashman SM...Kumar-Singh R	15877050	2005
24	Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. ⁵³ ⁶²	O'Connor E...Trump D	15905181	2005
25	A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. ⁵³ ⁶²	Hemara-Wahanui A...Maw MA	15897456	2005
26	Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. ⁵³ ⁶²	Hope CI...Clover GM	15807819	2005
27	Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. ⁵³ ⁶²	Zeitz C...Berger W	15761389	2005
28	Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. ⁵³ ⁶²	Khan NW...Sieving PA	15331616	2005
29	The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution. ⁵³ ⁶²	McRory JE...Snutch TP	14973233	2004
30	NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. ⁵³ ⁶²	Zeitz C...Berger W	14507859	2003
31	Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. ⁵³ ⁶²	Nakamura M...Miyake Y	12860808	2003
32	A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. ⁵³ ⁶²	Jacobi FK...Pusch CM	12719097	2003
33	Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. ⁵³ ⁶²	Pesch K...Wissinger B	12714669	2003
34	Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. ⁵³ ⁶²	Jacobi FK...Pusch CM	12397430	2002
35	Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). ⁵³ ⁶²	Weleber RG	12187427	2002
36	Calcium channels and channelopathies of the central nervous system. ⁵³ ⁶²	Pietrobon D	11890456	2002
37	Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. ⁵³ ⁶²	Scholl HP...Apfelstedt-Sylla E	11581222	2001
38	Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders. ⁵³ ⁶²	Pesch K...Pusch CM	11408949	2001
39	Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. ⁵³ ⁶²	Nakamura M...Miyake Y	11381068	2001
40	Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. ⁵³ ⁶²	Bech-Hansen NT...Weleber RG	11062471	2000
41	The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. ⁵³ ⁶²	Pusch CM...Meindl A	11062472	2000
42	Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. ⁵³ ⁶²	Lorenz B...Gal A	10937591	2000
43	Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. ⁵³ ⁶²	Boycott KM...Bech-Hansen NT	10900517	2000
44	Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. ⁵³ ⁶²	Naylor MJ...Bech-Hansen NT	10873387	2000
45	11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. ⁵³ ⁶²	Gonzalez-Fernandez F...Khani SC	10617778	1999
46	Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. ⁵³ ⁶²	Chen CK...Simon MI	10097103	1999
47	Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. ⁵³ ⁶²	Aguirre GD...Acland GM	9808841	1998
48	[Recent progress in clinical aspects of receptor research]. ⁵³ ⁶²	Imura H	9702034	1998
49	Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. ⁵³ ⁶²	Khani SC...Vogt TM	9501174	1998
50	Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. ⁵³ ⁶²	Gal A...Rosenberg T	8004102	1994

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Genes for Congenital Stationary Night Blindness

Genes related to Congenital Stationary Night Blindness (17 elite genes):

(show top 50) (show all 111)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NYX	Nyctalopin	Protein Coding	826.56	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	20301423 12397430 17392683 (more) 14507859 15331616 11062471 16261423 11408949 15905181 11581222 12714669 15761389
2	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	824.22	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	22008250 16249515 17405131 (more) 16622103 19666700 19862333
3	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	816.24	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	9662399 9662400 11281458 (more) 20301423 12719097 10900517 12860808 16505158 17525176 14973233 15897456 15807819 20238058 11381068 10873387 15761389 11890456 17479213 18246026 12187427
4	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	803.08	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	19896109 19896113 19878917
5	GPR179	G Protein-Coupled Receptor 179	Protein Coding	802.06	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	22325361 22325362
6	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	431.9	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	12515255
7	PDE6B	Phosphodiesterase 6B	Protein Coding	420.94	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries (show sections)	8075643 30718709 17044014 (more) 8004102
8	USH2A	Usherin	Protein Coding	406.48	Pathogenic ⁵ DISEASES inferred ¹⁴	30718709
9	SLC24A1	Solute Carrier Family 24 Member 1	Protein Coding	396.33	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	20850105
10	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	386.79	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	8673138 22190596
11	LRIT3	Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3	Protein Coding	386.74	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	23246293
12	RHO	Rhodopsin	Protein Coding	385.59	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	9888392 9702034 8317502 (more) 15877050 2280934
13	CABP4	Calcium Binding Protein 4	Protein Coding	376.89	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	16960802
14	GNB3	G Protein Subunit Beta 3	Protein Coding	373.4	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	27063057
15	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	83.43	Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	30718709 9501174 10097103
16	SAG	S-Antigen Visual Arrestin	Protein Coding	39.28	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	19578023
17	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	32.05	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	19578023
18	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	32.01	Likely pathogenic ⁵ DISEASES inferred ¹⁴
19	RBP3	Retinol Binding Protein 3	Protein Coding	30.2	Likely pathogenic ⁵ DISEASES inferred ¹⁴
20	RDH5	Retinol Dehydrogenase 5	Protein Coding	25.49	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10617778
21	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	23.76	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9808841 10937591
22	NLRP12	NLR Family Pyrin Domain Containing 12	Protein Coding	15.69	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11062472
23	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	14.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
24	GNAO1	G Protein Subunit Alpha O1	Protein Coding	13.63	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	GNAI1	G Protein Subunit Alpha I1	Protein Coding	7.73	GeneCards inferred via : Publications (show sections)
26	GRK7	G Protein-Coupled Receptor Kinase 7	Protein Coding	7.11	DISEASES inferred ¹⁴
27	PDE6A	Phosphodiesterase 6A	Protein Coding	6.94	DISEASES inferred ¹⁴
28	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	6.85	DISEASES inferred ¹⁴
29	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	6.81	DISEASES inferred ¹⁴
30	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	6.8	DISEASES inferred ¹⁴
31	CNGB1	Cyclic Nucleotide Gated Channel Subunit Beta 1	Protein Coding	6.76	DISEASES inferred ¹⁴
32	CRYAA	Crystallin Alpha A	Protein Coding	6.74	DISEASES inferred ¹⁴ ¹⁴
33	PRPH2	Peripherin 2	Protein Coding	6.68	DISEASES inferred ¹⁴
34	EYS	Eyes Shut Homolog	Protein Coding	6.67	DISEASES inferred ¹⁴
35	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	6.67	DISEASES inferred ¹⁴
36	PDE6G	Phosphodiesterase 6G	Protein Coding	6.65	DISEASES inferred ¹⁴
37	RGS11	Regulator Of G Protein Signaling 11	Protein Coding	6.58	DISEASES inferred ¹⁴
38	RGS9BP	Regulator Of G Protein Signaling 9 Binding Protein	Protein Coding	6.58	DISEASES inferred ¹⁴
39	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.51	DISEASES inferred ¹⁴
40	PDE6C	Phosphodiesterase 6C	Protein Coding	6.44	DISEASES inferred ¹⁴
41	CRX	Cone-Rod Homeobox	Protein Coding	6.44	DISEASES inferred ¹⁴
42	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.4	DISEASES inferred ¹⁴
43	GNB5	G Protein Subunit Beta 5	Protein Coding	6.32	DISEASES inferred ¹⁴
44	NRL	Neural Retina Leucine Zipper	Protein Coding	6.31	DISEASES inferred ¹⁴
45	PRPF31	Pre-MRNA Processing Factor 31	Protein Coding	6.31	DISEASES inferred ¹⁴
46	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	6.31	DISEASES inferred ¹⁴
47	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	6.3	DISEASES inferred ¹⁴
48	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.28	DISEASES inferred ¹⁴
49	RGR	Retinal G Protein Coupled Receptor	Protein Coding	6.28	DISEASES inferred ¹⁴
50	RGS7	Regulator Of G Protein Signaling 7	Protein Coding	6.26	DISEASES inferred ¹⁴

Sources

Variations for Congenital Stationary Night Blindness

ClinVar genetic disease variations for Congenital Stationary Night Blindness:

⁵ (show top 50) (show all 59)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CACNA1F	NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs)	DEL	Pathogenic	438118	rs1557110192	GRCh37: X:49083490-49083490 GRCh38: X:49227028-49227028
2	GRM6	NM_000843.4(GRM6):c.577del (p.Val193fs)	DEL	Pathogenic	437970	rs781463257	GRCh37: 5:178419012-178419012 GRCh38: 5:178992011-178992011
3	CACNA1F	NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)	SNV	Pathogenic	11615	rs122456134	GRCh37: X:49074970-49074970 GRCh38: X:49218511-49218511
4	CACNA1F	NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)	SNV	Pathogenic	812246	rs1602630650	GRCh37: X:49069148-49069148 GRCh38: X:49212688-49212688
5	TRPM1	NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)	SNV	Pathogenic	593857	rs1485132228	GRCh37: 15:31327754-31327754 GRCh38: 15:31035551-31035551
6	CACNA1F	NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)	SNV	Pathogenic	11617	rs122456135	GRCh37: X:49075803-49075803 GRCh38: X:49219344-49219344
7	GPR179	NM_001004334.4(GPR179):c.984del (p.Ser329fs)	DEL	Pathogenic	31204	rs770066665	GRCh37: 17:36493523-36493523 GRCh38: 17:38337640-38337640
8	TRPM1	NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)	SNV	Pathogenic	812434	rs765645888	GRCh37: 15:31327816-31327816 GRCh38: 15:31035613-31035613
9	TRPM1	NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)	SNV	Pathogenic	812435	rs1596029830	GRCh37: 15:31355340-31355340 GRCh38: 15:31063137-31063137
10	CACNA1F	NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)	SNV	Pathogenic	812245	rs782740998	GRCh37: X:49068407-49068407 GRCh38: X:49211947-49211947
11	CACNA1F	NM_001256789.3(CACNA1F):c.2086-2A>G	SNV	Pathogenic	624415	rs1358925739	GRCh37: X:49079299-49079299 GRCh38: X:49222840-49222840
12	CACNA1F	NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)	SNV	Pathogenic	810596	rs1602621312	GRCh37: X:49063072-49063072 GRCh38: X:49206611-49206611
13	CACNA1F	NM_001256789.3(CACNA1F):c.1118+1G>C	SNV	Pathogenic	813026	rs2065841382	GRCh37: X:49084497-49084497 GRCh38: X:49228035-49228035
14	USH2A	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	DEL	Pathogenic	2351	rs80338903	GRCh37: 1:216420437-216420437 GRCh38: 1:216247095-216247095
15	NYX	NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)	DUP	Pathogenic	812362	rs1602181253	GRCh37: X:41333966-41333967 GRCh38: X:41474713-41474714
16	NYX	NM_001378477.3(NYX):c.1054_1055del (p.Val352fs)	MICROSAT	Pathogenic	812361	rs1602181043	GRCh37: X:41333773-41333774 GRCh38: X:41474520-41474521
17	CACNA1F	NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs)	DUP	Pathogenic	812252	rs1602658505	GRCh37: X:49088221-49088222 GRCh38: X:49231759-49231760
18	CACNA1F	NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)	SNV	Pathogenic	812249	rs1602644716	GRCh37: X:49079044-49079044 GRCh38: X:49222585-49222585
19	CACNA1F	NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)	SNV	Pathogenic	812248	rs1602641426	GRCh37: X:49076166-49076166 GRCh38: X:49219707-49219707
20	CACNA1F	NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs)	DEL	Pathogenic	812247	rs1602639607	GRCh37: X:49075156-49075156 GRCh38: X:49218697-49218697
21	ABCA4	NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)	SNV	Pathogenic	438093	rs61751398	GRCh37: 1:94508386-94508386 GRCh38: 1:94042830-94042830
22	NYX	NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)	SNV	Pathogenic	812359	rs1602180791	GRCh37: X:41333503-41333503 GRCh38: X:41474250-41474250
23	NYX	NM_001378477.3(NYX):c.481G>C (p.Ala161Pro)	SNV	Likely Pathogenic	812358	rs1602180478	GRCh37: X:41333202-41333202 GRCh38: X:41473949-41473949
24	TRPM1	NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs)	DUP	Likely Pathogenic	438219	rs770380556	GRCh37: 15:31320613-31320614 GRCh38: 15:31028410-31028411
25	TRPM1	NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg)	SNV	Likely Pathogenic	438222	rs1555424166	GRCh37: 15:31355454-31355454 GRCh38: 15:31063251-31063251
26	CACNA1F	NM_001256789.3(CACNA1F):c.2733+1G>A	SNV	Likely Pathogenic	438122	rs1557108147	GRCh37: X:49075340-49075340 GRCh38: X:49218881-49218881
27	TRPM1	NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu)	SNV	Likely Pathogenic	438220	rs1555424849	GRCh37: 15:31360195-31360195 GRCh38: 15:31067992-31067992
28	CACNA1F	NM_001256789.3(CACNA1F):c.4261-9G>A	SNV	Likely Pathogenic	812244	rs1602628429	GRCh37: X:49067561-49067561 GRCh38: X:49211101-49211101
29	CACNA1F	NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)	SNV	Likely Pathogenic	812243	rs1602627593	GRCh37: X:49067081-49067081 GRCh38: X:49210621-49210621
30	PDE6B	NM_000283.4(PDE6B):c.293G>A (p.Arg98His)	SNV	Likely Pathogenic	636061	rs776050413	GRCh37: 4:619708-619708 GRCh38: 4:625919-625919
31	NYX	NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)	SNV	Likely Pathogenic	812360	rs1602181006	GRCh37: X:41333724-41333724 GRCh38: X:41474471-41474471
32	CACNA1F	NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)	MICROSAT	Likely Pathogenic	438129	rs1557110499	GRCh37: X:49084773-49084775 GRCh38: X:49228311-49228313
33	CACNA1F	NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)	SNV	Likely Pathogenic	438128	rs1557110988	GRCh37: X:49086715-49086715 GRCh38: X:49230253-49230253
34	GRM6	NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del)	DEL	Likely Pathogenic	437969	rs1237461749	GRCh37: 5:178421814-178421828 GRCh38: 5:178994813-178994827
35	TRPM1	NM_001252024.2(TRPM1):c.618+3_618+6del	DEL	Likely Pathogenic	438221	rs781610444	GRCh37: 15:31359260-31359263 GRCh38: 15:31067057-31067060
36	GRM6	NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)	SNV	Likely Pathogenic	5844	rs62638197	GRCh37: 5:178421809-178421809 GRCh38: 5:178994808-178994808
37	RBP3	NM_002900.3(RBP3):c.826TTC[2] (p.Phe278del)	MICROSAT	Likely Pathogenic	437963	rs782604129	GRCh37: 10:48390044-48390046 GRCh38: 10:47349309-47349311
38	NYX	NM_001378477.3(NYX):c.335T>A (p.Leu112Gln)	SNV	Likely Pathogenic	812357	rs1602180352	GRCh37: X:41333056-41333056 GRCh38: X:41473803-41473803
39	TRPM1	NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)	SNV	Likely Pathogenic	225502	rs768701595	GRCh37: 15:31352747-31352747 GRCh38: 15:31060544-31060544
40	CACNA1F	NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)	SNV	Likely Pathogenic	438123	rs1557107417	GRCh37: X:49072898-49072898 GRCh38: X:49216438-49216438
41	CACNA1F	NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs)	DEL	Likely Pathogenic	438121	rs1557109796	GRCh37: X:49082513-49082517 GRCh38: X:49226051-49226055
42	GPR179	NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs)	DUP	Likely Pathogenic	505393	rs1200683561	GRCh37: 17:36486744-36486745 GRCh38: 17:38330861-38330862
43	GPR179	NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer)	INDEL	Likely Pathogenic	286815	rs886043488	GRCh37: 17:36495400-36495404 GRCh38: 17:38339517-38339521
44	GRK1	NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)	SNV	Likely Pathogenic	636033	rs1594580431	GRCh37: 13:114436046-114436046 GRCh38: 13:113733073-113733073
45	TRPM1	NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr)	SNV	Likely Pathogenic	438217	rs1555418784	GRCh37: 15:31320673-31320673 GRCh38: 15:31028470-31028470
46	CACNA1F	NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter)	INSERT	Likely Pathogenic	438119	rs1557110046	GRCh37: X:49083135-49083136 GRCh38: X:49226673-49226674
47	RPGR	NM_001034853.2(RPGR):c.633del (p.Tyr212fs)	DEL	Likely Pathogenic	438146	rs1555966753	GRCh37: X:38170013-38170013 GRCh38: X:38310760-38310760
48	CACNA1F	NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs)	DEL	Likely Pathogenic	438124	rs1557107192	GRCh37: X:49071931-49071932 GRCh38: X:49215471-49215472
49	CACNA1F	NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)	SNV	Likely Pathogenic	438127	rs1557106008	GRCh37: X:49067096-49067096 GRCh38: X:49210636-49210636
50	NYX	NM_001378477.3(NYX):c.977TCTTCC[1] (p.326LF[1])	MICROSAT	Likely Pathogenic	438057	rs1555967281	GRCh37: X:41333696-41333701 GRCh38: X:41474443-41474448

Sources

Expression for Congenital Stationary Night Blindness

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

Sources

Pathways for Congenital Stationary Night Blindness

Pathways directly related to Congenital Stationary Night Blindness:

#	Pathway	Source
1	Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)	Reactome ⁶⁶

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

#	Super pathways	Score	Top Affiliating Genes
1	Olfactory Signaling Pathway ⁶⁶ Show member pathways Expression and translocation of olfactory receptors ⁶⁶ Sensory Perception ⁶⁶	13	ABCA4 GNAT1 GNB3 GRK1 PDE6B RBP3
2	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	12.96	TRPM1 GRM6 GNB3 GNAT1 CACNA2D4 CACNA1F
3	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.32	GNB3 GNAT1 CACNA2D4 CACNA1F
4	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.15	SLC24A1 SAG RHO RDH5 RBP3 PDE6B
5	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.4	RHO RDH5 RBP3 ABCA4
6	Visual Cycle in Retinal Rods ⁶⁴	11.25	SLC24A1 SAG RHO RDH5 RBP3 PDE6B
7	Visual signal transduction: Cones ⁶¹	10.86	RDH5 GRK1 GNB3
8	15q13.3 copy number variation syndrome ⁷⁴	10.62	TRPM1 GRM6

Sources

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	membrane	GO:0016020	10.51	USH2A TRPM1 SLC24A1 RHO RDH5 PDE6B
2	membrane	GO:0016021	10.51	USH2A TRPM1 SLC24A1 RHO RDH5 PDE6B
3	photoreceptor inner segment	GO:0001917	9.92	USH2A SAG RHO GNAT1
4	photoreceptor disc membrane	GO:0097381	9.85	RHO PDE6B GRK1 GNAT1 ABCA4
5	photoreceptor outer segment membrane	GO:0042622	9.73	GNAT1 PDE6B RHO
6	cell projection	GO:0042995	9.73	USH2A TRPM1 SAG RPGR RHO PDE6B
7	photoreceptor outer segment	GO:0001750	9.47	SAG RPGR RHO PDE6B GRK1 GNAT1

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	10.17	ABCA4 CABP4 CACNA1F GNAT1 GPR179 GRK1
2	calcium ion transmembrane transport	GO:0070588	10.05	TRPM1 SLC24A1 CACNA2D4 CACNA1F
3	retina development in camera-type eye	GO:0060041	10.01	RHO PDE6B GRM6 GNAT1
4	photoreceptor cell maintenance	GO:0045494	10	USH2A RHO ABCA4
5	retinoid metabolic process	GO:0001523	9.95	RDH5 RBP3 ABCA4
6	calcium ion import across plasma membrane	GO:0098703	9.93	CACNA1F SLC24A1 TRPM1
7	detection of light stimulus involved in visual perception	GO:0050908	9.92	GRM6 GNAT1 CACNA2D4 CACNA1F
8	phototransduction	GO:0007602	9.89	RHO GNAT1 CABP4
9	phototransduction, visible light	GO:0007603	9.86	ABCA4 GNAT1 PDE6B RHO
10	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.85	GRK1 GNAT1
11	response to light intensity	GO:0009642	9.84	SLC24A1 GNAT1
12	rhodopsin mediated signaling pathway	GO:0016056	9.76	SAG RHO GRK1 GNAT1
13	sensory perception of light stimulus	GO:0050953	9.67	USH2A RHO GRM6
14	response to stimulus	GO:0050896	9.6	ABCA4 CACNA1F GNAT1 GRK1 GRM6 LRIT3
15	detection of light stimulus	GO:0009583	9.43	RHO PDE6B

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

#	Name	GO ID	Score	Top Affiliating Genes
1	retinoid binding	GO:0005501	9.46	RBP3 ABCA4
2	11-cis retinal binding	GO:0005502	9.26	RHO ABCA4
3	calcium channel activity	GO:0005262	9.1	TRPM1 SLC24A1 CACNA2D4 CACNA1F

Sources

Sources for Congenital Stationary Night Blindness

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CNG010 MIFTS: 54	Congenital Stationary Night Blindness Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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