Night Blindness, Congenital Stationary, Autosomal Dominant 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Name: Night Blindness, Congenital Stationary, Autosomal Dominant 1 ⁵⁷ ⁷³ ⁷¹

Congenital Stationary Night Blindness Autosomal Dominant 1 ¹¹ ²⁸ ⁵ ¹⁴

Csnbad1 ⁵⁷ ¹¹ ⁷³

Rhodopsin-Related Congenital Stationary Night Blindness ¹¹ ⁷³

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 ³⁸

Night Blindness, Congenital Stationary, Rhodopsin-Related ⁵⁷

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in early childhood
older patients show minimal retinal degeneration

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0110862

OMIM® ⁵⁷ 610445

OMIM Phenotypic Series ⁵⁷ PS310500

MeSH ⁴³ D009755

MedGen ⁴⁰ C1864869

SNOMED-CT via HPO ⁶⁹ 12184005 193687000 232061009

UMLS ⁷¹ C1864869

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Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Disease Ontology: ¹¹ A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in mutations in the RHO gene on chromosome 3q22.1.

MalaCards based summary: Night Blindness, Congenital Stationary, Autosomal Dominant 1, also known as congenital stationary night blindness autosomal dominant 1, is related to abnormal threshold of rods and retinitis pigmentosa 4. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 1 is RHO (Rhodopsin). Affiliated tissues include retina and bone, and related phenotypes are congenital stationary night blindness and visual field defect

UniProtKB/Swiss-Prot: ⁷³ A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

More information from OMIM: 610445 PS310500

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Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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 Night Blindness, Congenital Stationary, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	abnormal threshold of rods	10.1	GNAT1 CACNA1F
2	retinitis pigmentosa 4	10.1	RHO GNAT1
3	oguchi disease	10.1	RHO CACNA1F
4	night blindness, congenital stationary, type 1a	10.1	GNAT1 CACNA1F
5	color blindness	10.0	RHO CACNA1F
6	leber congenital amaurosis 2	10.0	SPATA7 RHO
7	hereditary retinal dystrophy	10.0	SPATA7 RHO
8	night blindness	10.0	RHO GNAT1 CACNA1F
9	retinoschisis 1, x-linked, juvenile	10.0	RHO CACNA1F
10	leber congenital amaurosis 10	10.0	SPATA7 RHO
11	fundus albipunctatus	9.9	RHO GNAT1 CACNA1F
12	refractive error	9.9	RHO CACNA1F
13	congenital stationary night blindness	9.9	RHO GNAT1 CACNA1F
14	achromatopsia	9.8	SPATA7 RHO CACNA1F
15	myopia	9.8	RHO GNAT1 CACNA1F
16	senior-loken syndrome 1	9.7	SPATA7 RHO
17	cone dystrophy	9.7	SPATA7 RHO GNAT1 CACNA1F
18	retinal degeneration	9.5	SPATA7 SEMA4A RHO GNAT1
19	leber plus disease	9.3	SPATA7 RHO PRPF4 GNAT1 CACNA1F
20	fundus dystrophy	9.0	SPATA7 SEMA4A RHO PRPF4 GNAT1 CACNA1F
21	cone-rod dystrophy 2	9.0	SPATA7 SEMA4A RHO PRPF4 GNAT1 CACNA1F
22	retinitis pigmentosa	8.7	SPATA7 SEMA4A RHO PRPF4 LSM8 GNAT1

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

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Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	congenital stationary night blindness ³⁰	Very rare (1%)	HP:0007642
2	visual field defect ³⁰		HP:0001123
3	bone spicule pigmentation of the retina ³⁰		HP:0007737
4	decreased light- and dark-adapted electroretinogram amplitude ³⁰		HP:0000654

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
night blindness, congenital (nonprogressive complete)
reduced or absent rod responses seen on electroretinography
cone responses normal in all but oldest patients
rhodopsin density normal

Clinical features from OMIM®:

610445 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased gamma-H2AX phosphorylation	GR00053-A	9.02	LSM8 PNISR PRPF4 RHO SPATA7

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Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search Clinical Trials, NIH Clinical Center for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

#	Genetic test	Affiliating Genes
1	Congenital Stationary Night Blindness Autosomal Dominant 1 ²⁸	RHO

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Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

MalaCards : Retina, Bone

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Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

(show all 12)

#	Title	Authors	PMID	Year
1	A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. ⁵⁷ ⁵	al-Jandal N...Kenna PF	9888392	1999
2	Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. ⁵⁷ ⁵	Dryja TP...Oprian DD	8358437	1993
3	Rod photoreceptor temporal properties in retinitis pigmentosa. ⁵	Wen Y...Birch DG	21219898	2011
4	Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. ⁵	Rakoczy EP...Serrano L	21094163	2011
5	Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F. ⁵	Grondahl J...Bragadottir R	17488458	2007
6	Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis. ⁵	Stojanovic A...Hwa J	12871954	2003
7	Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled. ⁵	Hwa J...Khorana HG	9380676	1997
8	Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. ⁵⁷	Sieving PA...Alpern M	7846071	1995
9	Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. ⁵	Fuchs S...Gal A	7981701	1994
10	Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. ⁵	Vaithinathan R...Dryja TP	8088850	1994
11	Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. ⁵	Rao VR...Oprian DD	8107847	1994
12	A NEW PEDIGREE OF IDIOPATHIC CONGENITAL NIGHT-BLINDNESS TRANSMITTED AS A DOMINANT HEREDITARY TRAIT. ⁵⁷	FRANCOIS J...DEROUCK A	14275464	1965

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Genes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RHO	Rhodopsin	Protein Coding	1338.33	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	7981701 8088850 8107847 (more) 8358437 9380676 12871954 17488458 21094163 21219898 9888392
2	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	5.83	DISEASES inferred ¹⁴
3	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	5.27	DISEASES inferred ¹⁴
4	LSM8	LSM8 Homolog, U6 Small Nuclear RNA Associated	Protein Coding	5.07	DISEASES inferred ¹⁴
5	PNISR	PNN Interacting Serine And Arginine Rich Protein	Protein Coding	4.75	DISEASES inferred ¹⁴
6	LCN8	Lipocalin 8	Protein Coding	4.75	DISEASES inferred ¹⁴
7	SEMA4A	Semaphorin 4A	Protein Coding	4.73	DISEASES inferred ¹⁴
8	PRPF4	Pre-MRNA Processing Factor 4	Protein Coding	4.66	DISEASES inferred ¹⁴
9	SPATA7	Spermatogenesis Associated 7	Protein Coding	4.61	DISEASES inferred ¹⁴

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Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

⁵ (show top 50) (show all 87)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RHO	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	SNV	Pathogenic	417867	rs104893793	GRCh37: 3:129249848-129249848 GRCh38: 3:129531005-129531005
2	RHO	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	SNV	Pathogenic	13045	rs104893790	GRCh37: 3:129247845-129247845 GRCh38: 3:129529002-129529002
3	RHO	NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	SNV	Pathogenic	13044	rs104893789	GRCh37: 3:129251554-129251554 GRCh38: 3:129532711-129532711
4	RHO	NM_000539.3(RHO):c.68C>A (p.Pro23His)	SNV	Pathogenic	13013	rs104893768	GRCh37: 3:129247644-129247644 GRCh38: 3:129528801-129528801
5	RHO	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	SNV	Likely Pathogenic	865880	rs984572250	GRCh37: 3:129251210-129251210 GRCh38: 3:129532367-129532367
6	RHO	NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	SNV	Likely Pathogenic	867081	rs1578278438	GRCh37: 3:129247904-129247904 GRCh38: 3:129529061-129529061
7	RHO	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	SNV	Likely Pathogenic	13054	rs104893796	GRCh37: 3:129247857-129247857 GRCh38: 3:129529014-129529014
8	RHO	NM_000539.3(RHO):c.362G>T (p.Gly121Val)	SNV	Likely Pathogenic	984781	rs2084774644	GRCh37: 3:129249719-129249719 GRCh38: 3:129530876-129530876
9	RHO	NM_000539.3(RHO):c.806C>A (p.Ala269Asp)	SNV	Uncertain Significance	984767	rs2084789658	GRCh37: 3:129251485-129251485 GRCh38: 3:129532642-129532642
10	RHO	NM_000539.3(RHO):c.*551G>A	SNV	Uncertain Significance	903111	rs933661466	GRCh37: 3:129253112-129253112 GRCh38: 3:129534269-129534269
11	RHO	NM_000539.3(RHO):c.*542G>A	SNV	Uncertain Significance	903110	rs369408405	GRCh37: 3:129253103-129253103 GRCh38: 3:129534260-129534260
12	RHO	NM_000539.3(RHO):c.*26C>T	SNV	Uncertain Significance	903052	rs773347364	GRCh37: 3:129252587-129252587 GRCh38: 3:129533744-129533744
13	RHO	NM_000539.3(RHO):c.*406G>C	SNV	Uncertain Significance	902235	rs2084804479	GRCh37: 3:129252967-129252967 GRCh38: 3:129534124-129534124
14	RHO	NM_000539.3(RHO):c.*285G>A	SNV	Uncertain Significance	900553	rs1487459358	GRCh37: 3:129252846-129252846 GRCh38: 3:129534003-129534003
15	RHO	NM_000539.3(RHO):c.732G>A (p.Gln244=)	SNV	Uncertain Significance	900511	rs148222991	GRCh37: 3:129251411-129251411 GRCh38: 3:129532568-129532568
16	RHO	NM_000539.3(RHO):c.847T>C (p.Phe283Leu)	SNV	Uncertain Significance	902169	rs2084790979	GRCh37: 3:129251526-129251526 GRCh38: 3:129532683-129532683
17	RHO	NM_000539.3(RHO):c.440G>A (p.Arg147His)	SNV	Uncertain Significance	902118	rs746468201	GRCh37: 3:129249797-129249797 GRCh38: 3:129530954-129530954
18	RHO	NM_000539.3(RHO):c.*1454G>A	SNV	Uncertain Significance	900699	rs2084812090	GRCh37: 3:129254015-129254015 GRCh38: 3:129535172-129535172
19	RHO	NM_000539.3(RHO):c.*1294A>G	SNV	Uncertain Significance	900698	rs1047324551	GRCh37: 3:129253855-129253855 GRCh38: 3:129535012-129535012
20	RHO	NM_000539.3(RHO):c.*815G>T	SNV	Uncertain Significance	900623	rs2084807511	GRCh37: 3:129253376-129253376 GRCh38: 3:129534533-129534533
21	RHO	NM_000539.3(RHO):c.*679A>G	SNV	Uncertain Significance	899491	rs1359424642	GRCh37: 3:129253240-129253240 GRCh38: 3:129534397-129534397
22	RHO	NM_000539.3(RHO):c.754C>T (p.Arg252Cys)	SNV	Uncertain Significance	900513	rs752805805	GRCh37: 3:129251433-129251433 GRCh38: 3:129532590-129532590
23	RHO	NM_000539.3(RHO):c.205C>T (p.Arg69Cys)	SNV	Uncertain Significance	900453	rs761101263	GRCh37: 3:129247781-129247781 GRCh38: 3:129528938-129528938
24	RHO	NM_000539.3(RHO):c.87C>T (p.Tyr29=)	SNV	Uncertain Significance	900393	rs149084537	GRCh37: 3:129247663-129247663 GRCh38: 3:129528820-129528820
25	RHO	NM_000539.3(RHO):c.-24G>T	SNV	Uncertain Significance	900391	rs771188148	GRCh37: 3:129247553-129247553 GRCh38: 3:129528710-129528710
26	RHO	NM_000539.3(RHO):c.*1179T>C	SNV	Uncertain Significance	899557	rs569761830	GRCh37: 3:129253740-129253740 GRCh38: 3:129534897-129534897
27	RHO	NM_000539.3(RHO):c.*670A>C	SNV	Uncertain Significance	899490	rs2084806843	GRCh37: 3:129253231-129253231 GRCh38: 3:129534388-129534388
28	RHO	NM_000539.3(RHO):c.*573C>T	SNV	Uncertain Significance	899489	rs2084806235	GRCh37: 3:129253134-129253134 GRCh38: 3:129534291-129534291
29	RHO	NM_000539.3(RHO):c.704C>A (p.Ala235Asp)	SNV	Uncertain Significance	899390	rs1390478420	GRCh37: 3:129251383-129251383 GRCh38: 3:129532540-129532540
30	RHO	NM_000539.3(RHO):c.*440C>G	SNV	Uncertain Significance	343293	rs886057971	GRCh37: 3:129253001-129253001 GRCh38: 3:129534158-129534158
31	RHO	NM_000539.3(RHO):c.*276C>T	SNV	Uncertain Significance	343291	rs759322778	GRCh37: 3:129252837-129252837 GRCh38: 3:129533994-129533994
32	RHO	NM_000539.3(RHO):c.*887G>C	SNV	Uncertain Significance	343301	rs886057975	GRCh37: 3:129253448-129253448 GRCh38: 3:129534605-129534605
33	RHO	NM_000539.3(RHO):c.*1255T>C	SNV	Uncertain Significance	343309	rs774496991	GRCh37: 3:129253816-129253816 GRCh38: 3:129534973-129534973
34	RHO	NM_000539.3(RHO):c.48G>A (p.Ala16=)	SNV	Uncertain Significance	343273	rs766112074	GRCh37: 3:129247624-129247624 GRCh38: 3:129528781-129528781
35	RHO	NM_000539.3(RHO):c.614T>G (p.Ile205Ser)	SNV	Uncertain Significance	343279	rs886057967	GRCh37: 3:129251177-129251177 GRCh38: 3:129532334-129532334
36	RHO	NM_000539.3(RHO):c.*224C>T	SNV	Uncertain Significance	343289	rs886057970	GRCh37: 3:129252785-129252785 GRCh38: 3:129533942-129533942
37	RHO	NM_000539.3(RHO):c.399C>A (p.Ile133=)	SNV	Uncertain Significance Not Provided	902117	rs372812523	GRCh37: 3:129249756-129249756 GRCh38: 3:129530913-129530913
38	RHO	NM_000539.3(RHO):c.696+12G>A	SNV	Uncertain Significance	343281	rs55915536	GRCh37: 3:129251271-129251271 GRCh38: 3:129532428-129532428
39	RHO	NM_000539.3(RHO):c.630C>T (p.Val210=)	SNV	Uncertain Significance	899388	rs371192803	GRCh37: 3:129251193-129251193 GRCh38: 3:129532350-129532350
40	RHO	NM_000539.3(RHO):c.697-11G>A	SNV	Uncertain Significance	899389	rs367631575	GRCh37: 3:129251365-129251365 GRCh38: 3:129532522-129532522
41	RHO	NM_000539.3(RHO):c.962T>A (p.Ile321Asn)	SNV	Uncertain Significance	861995	rs1316267671	GRCh37: 3:129252476-129252476 GRCh38: 3:129533633-129533633
42	RHO	NM_000539.3(RHO):c.*1144C>T	SNV	Uncertain Significance	343307	rs886057977	GRCh37: 3:129253705-129253705 GRCh38: 3:129534862-129534862
43	RHO	NM_000539.3(RHO):c.*633G>A	SNV	Uncertain Significance	343296	rs886057972	GRCh37: 3:129253194-129253194 GRCh38: 3:129534351-129534351
44	RHO	NM_000539.3(RHO):c.*1455T>C	SNV	Uncertain Significance	343310	rs552362456	GRCh37: 3:129254016-129254016 GRCh38: 3:129535173-129535173
45	RHO	NM_000539.3(RHO):c.*40C>T	SNV	Uncertain Significance	343284	rs886057968	GRCh37: 3:129252601-129252601 GRCh38: 3:129533758-129533758
46	RHO	NM_000539.3(RHO):c.*1599G>A	SNV	Uncertain Significance	343311	rs576980794	GRCh37: 3:129254160-129254160 GRCh38: 3:129535317-129535317
47	RHO	NM_000539.3(RHO):c.*970C>T	SNV	Uncertain Significance	343305	rs886057976	GRCh37: 3:129253531-129253531 GRCh38: 3:129534688-129534688
48	RHO	NM_000539.3(RHO):c.*115G>A	SNV	Uncertain Significance	343285	rs886057969	GRCh37: 3:129252676-129252676 GRCh38: 3:129533833-129533833
49	RHO	NM_000539.3(RHO):c.*741T>C	SNV	Uncertain Significance	343299	rs753496233	GRCh37: 3:129253302-129253302 GRCh38: 3:129534459-129534459
50	RHO	NM_000539.3(RHO):c.*838A>T	SNV	Uncertain Significance	343300	rs886057974	GRCh37: 3:129253399-129253399 GRCh38: 3:129534556-129534556

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RHO	p.Gly90Asp	VAR_004783	rs104893790
2	RHO	p.Thr94Ile	VAR_004784	rs104893796
3	RHO	p.Ala292Glu	VAR_004827	rs104893789

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Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Autosomal Dominant 1.

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Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	U2-type precatalytic spliceosome	GO:0071005	9.67	PRPF4 LSM8
2	photoreceptor connecting cilium	GO:0032391	9.62	SPATA7 GNAT1
3	photoreceptor disc membrane	GO:0097381	9.56	RHO GNAT1
4	photoreceptor outer segment membrane	GO:0042622	9.46	RHO GNAT1
5	rod photoreceptor outer segment	GO:0120200	9.26	SPATA7 RHO
6	photoreceptor outer segment	GO:0001750	9.17	SPATA7 RHO GNAT1 CACNA1F

Biological processes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor cell maintenance	GO:0045494	9.73	SPATA7 RHO
2	detection of light stimulus involved in visual perception	GO:0050908	9.67	GNAT1 CACNA1F
3	response to stimulus	GO:0050896	9.65	SPATA7 RHO GNAT1 CACNA1F
4	phototransduction	GO:0007602	9.58	RHO GNAT1
5	visual perception	GO:0007601	9.56	SPATA7 RHO GNAT1 CACNA1F
6	response to light stimulus	GO:0009416	9.5	RHO GNAT1
7	phototransduction, visible light	GO:0007603	9.46	RHO GNAT1
8	rhodopsin mediated signaling pathway	GO:0016056	8.92	RHO GNAT1

Molecular functions related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	U6 snRNA binding	GO:0017070	8.92	PRPF4 LSM8

Sources

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

CSNBAD1 MCID: NGH021 MIFTS: 36	Night Blindness, Congenital Stationary, Autosomal Dominant 1 (CSNBAD1) Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Night Blindness, Congenital Stationary, Autosomal Dominant 1 (CSNBAD1)

Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Diseases in the Congenital Stationary Night Blindness family:

Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Genes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 (1 elite genes):

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 1

GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Biological processes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Molecular functions related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1