CSNB2A
MCID: NGH025
MIFTS: 44

Night Blindness, Congenital Stationary, Type 2a (CSNB2A)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 2a

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 2a:

Name: Night Blindness, Congenital Stationary, Type 2a 57 70
Night Blindness, Congenital Stationary , 2a, X-Linked 57 29 13
Congenital Stationary Night Blindness, Type 2a 29 6
Congenital Stationary Night Blindness 2a 12 15
Csnb2a 57 72
Csnb2 57 54
Night Blindness, Congenital Stationary, Type 2; Csnb2 57
Congenital Stationary Night Blindness 2a X-Linked 12
Blindness, Night, Stationary, Congenital, Type 2a 39
Night Blindness, Congenital Stationary, Type 2 57
Congenital Stationary Night Blindness Type 2 72
Night Blindness, Congenital Stationary, 2a 72
Csnb, Incomplete, X-Linked 57
Incomplete X-Linked Csnb 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
heterogeneous
x-linked form


HPO:

31
night blindness, congenital stationary, type 2a:
Inheritance x-linked inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110871
OMIM® 57 300071
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
MedGen 41 C1848172
UMLS 70 C1848172

Summaries for Night Blindness, Congenital Stationary, Type 2a

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, 2A: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

MalaCards based summary : Night Blindness, Congenital Stationary, Type 2a, also known as night blindness, congenital stationary , 2a, x-linked, is related to x-linked congenital stationary night blindness and night blindness, congenital stationary, type 1a. An important gene associated with Night Blindness, Congenital Stationary, Type 2a is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways/superpathways are Aldosterone synthesis and secretion and CCR5 Pathway in Macrophages. Affiliated tissues include eye and retina, and related phenotypes are visual impairment and reduced visual acuity

Disease Ontology : 12 A congenital stationary night blindness that has material basis in mutation in the CACNA1F gene on chromosome Xp11.23.

More information from OMIM: 300071 PS310500

Related Diseases for Night Blindness, Congenital Stationary, Type 2a

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, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 32.9 NYX CACNA1F
2 night blindness, congenital stationary, type 1a 32.8 NYX CACNA1F
3 retinal disease 30.3 PDE6B NYX CRYAA CACNA1F
4 cone-rod dystrophy, x-linked, 3 30.2 NYX CRYAA CACNA1F
5 pathologic nystagmus 30.0 NYX GNAT2 CRYAA CACNA1F
6 night blindness 29.8 PDE6H PDE6B NYX GRK1 CACNA1F
7 eye disease 29.6 PDE6B NYX GNAT2 CRYAA CACNA1F
8 myopia 29.5 PDE6B NYX CRYAA CACNA1F ARR3
9 macular degeneration, age-related, 1 29.4 PDE6B GRK1 GNAT2 CRYAA ARR3
10 retinal degeneration 29.4 PDE6B GRK1 GNAT2 CRYAA ARR3
11 cone dystrophy 29.4 PDE6H PDE6B GRK1 GNAT2 CRYAA CACNA1F
12 achromatopsia 29.0 PDE6H PDE6B NYX GRK1 GNAT2 CRYAA
13 cone-rod dystrophy 2 28.9 PDE6H PDE6B NYX GRK1 GNAT2 CRYAA
14 congenital stationary night blindness 28.4 PRKCA PDE6B NYX GRK1 GNAT2 CTBP2
15 retinitis pigmentosa 27.3 PRKCA PDE6H PDE6B NYX MMUT GRK1
16 47,xyy 10.4
17 night blindness, congenital stationary, type 1c 10.4 NYX CACNA1F
18 morgagni cataract 10.4 CRYGB CRYAA
19 immature cataract 10.3 CRYGB CRYAA
20 cataract 24 10.3 CRYGB CRYAA
21 cataract 32, multiple types 10.3 CRYBA1 CRYAA
22 congenital aphakia 10.3 CRYGB CRYAA
23 scleral staphyloma 10.3 CRYBA1 CRYAA
24 cataract 48 10.3 CRYGB CRYAA
25 leukocoria 10.3 CRYBA1 CRYAA
26 achromatopsia 7 10.3 PDE6H GNAT2
27 red-green color blindness 10.3 PDE6H GNAT2
28 presbyopia 10.3 CRYGB CRYAA
29 cycloplegia 10.3 PDE6H GNAT2
30 eye accommodation disease 10.3 CRYGB CRYAA
31 achromatopsia 2 10.3 PDE6H GNAT2
32 tritanopia 10.3 PDE6H GNAT2
33 cataract 6, multiple types 10.3 CRYBA1 CRYAA
34 oguchi disease 1 10.3 GRK1 ARR3
35 myasthenic syndrome, congenital, 3a, slow-channel 10.3 GRK1 ARR3
36 cataract 11, multiple types 10.2 CRYBA1 CRYAA
37 early-onset lamellar cataract 10.2 CRYGB CRYBA1 CRYAA
38 cataract 31, multiple types 10.2 CRYBA1 CRYAA
39 blue cone monochromacy 10.2 PDE6H NYX GNAT2
40 lens disease 10.2 CRYGB CRYBA1 CRYAA
41 cataract 44 10.2 CRYGB CRYAA
42 oguchi disease 2 10.2 GRK1 ARR3
43 night blindness, congenital stationary, autosomal dominant 2 10.1 PDE6H PDE6B
44 enhanced s-cone syndrome 10.1 GRK1 GNAT2 ARR3
45 achromatopsia 3 10.1 PDE6H NYX GNAT2 CACNA1F
46 achromatopsia 4 10.1 PDE6H GNAT2
47 cataract 16, multiple types 10.1 CRYBA1 CRYAA
48 retinoschisis 1, x-linked, juvenile 10.1 NYX GRK1 GNAT2 CACNA1F
49 abnormal threshold of rods 10.1 PDE6B GRK1 CACNA1F
50 yemenite deaf-blind hypopigmentation syndrome 10.0

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Type 2a:



Diseases related to Night Blindness, Congenital Stationary, Type 2a

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 2a

Human phenotypes related to Night Blindness, Congenital Stationary, Type 2a:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 reduced visual acuity 31 HP:0007663
3 congenital stationary night blindness 31 HP:0007642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
congenital stationary night blindness
decreased visual acuity
loss of night vision

Clinical features from OMIM®:

300071 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Type 2a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.73 CACNA1F CRYBA1 CTBP2 GNA11 GNAT2 GPX3
2 vision/eye MP:0005391 9.32 ARR3 CACNA1F CRYBA1 CRYGB EDN2 GNAT2

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 2a

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 2a

Genetic Tests for Night Blindness, Congenital Stationary, Type 2a

Genetic tests related to Night Blindness, Congenital Stationary, Type 2a:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 2a 29 CACNA1F
2 Night Blindness, Congenital Stationary (incomplete), 2a, X-Linked 29

Anatomical Context for Night Blindness, Congenital Stationary, Type 2a

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 2a:

40
Eye, Retina

Publications for Night Blindness, Congenital Stationary, Type 2a

Articles related to Night Blindness, Congenital Stationary, Type 2a:

(show all 36)
# Title Authors PMID Year
1
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 6 54 57
9662400 1998
2
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 57 6
9662399 1998
3
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. 6 57
9529339 1998
4
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. 6 54
12719097 2003
5
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. 57 54
11381068 2001
6
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 6
30576320 2018
7
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. 6
25307992 2015
8
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 6
23714322 2013
9
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. 57
16155113 2005
10
Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina. 57
14744918 2004
11
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. 6
12111638 2002
12
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. 6
11281458 2001
13
Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. 57
9418727 1997
14
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. 57
8933343 1996
15
Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region. 57
7633454 1995
16
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. 61
33513752 2021
17
Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A). 61
33117610 2020
18
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss. 61
31884617 2019
19
Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). 61
29179637 2018
20
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. 61
22194652 2011
21
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. 54
20238058 2010
22
A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. 54
18246026 2008
23
Attenuation of oscillatory potentials in nob2 mice. 54
17479213 2007
24
A novel CACNA1F gene mutation causes Aland Island eye disease. 54
17525176 2007
25
The Ca(v)1.4 calcium channel: more than meets the eye. 54
19151588 2007
26
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. 54
16960802 2006
27
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 54
16505158 2006
28
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. 54
15897456 2005
29
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. 54
15807819 2005
30
Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. 54
15634789 2005
31
Multifocal oscillatory potentials in CSNB1 and CSNB2 type congenital stationary night blindness. 54
15583843 2005
32
[Molecular genetic study of congenital stationary night blindness]. 54
15584351 2004
33
Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. 54
12860808 2003
34
[Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness]. 54
12610835 2002
35
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 54
12187427 2002
36
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. 54
10900517 2000

Variations for Night Blindness, Congenital Stationary, Type 2a

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 2a:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1F NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) SNV Pathogenic 587382 rs782581701 GRCh37: X:49067064-49067064
GRCh38: X:49210604-49210604
2 CACNA1F NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) SNV Pathogenic 867055 GRCh37: X:49072925-49072925
GRCh38: X:49216465-49216465
3 CACNA1F NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs) Deletion Pathogenic 988787 GRCh37: X:49081377-49081377
GRCh38: X:49224915-49224915
4 CACNA1F NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter) SNV Pathogenic 988790 GRCh37: X:49062998-49062998
GRCh38: X:49206537-49206537
5 CACNA1F NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) Duplication Pathogenic 21443 rs80359870 GRCh37: X:49072944-49072945
GRCh38: X:49216484-49216485
6 CACNA1F NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) SNV Pathogenic 812246 rs1602630650 GRCh37: X:49069148-49069148
GRCh38: X:49212688-49212688
7 CACNA1F CACNA1F, 1-BP DEL, 4548C Deletion Pathogenic 11618 GRCh37:
GRCh38:
8 CACNA1F CACNA1F, 1-BP INS, 991C Insertion Pathogenic 11616 GRCh37:
GRCh38:
9 CACNA1F NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) SNV Pathogenic 11614 rs122456133 GRCh37: X:49084510-49084510
GRCh38: X:49228048-49228048
10 CACNA1F NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) SNV Pathogenic 11617 rs122456135 GRCh37: X:49075803-49075803
GRCh38: X:49219344-49219344
11 CACNA1F NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) SNV Pathogenic 11615 rs122456134 GRCh37: X:49074970-49074970
GRCh38: X:49218511-49218511
12 CACNA1F NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) SNV Pathogenic 265464 rs886039559 GRCh37: X:49081260-49081260
GRCh38: X:49224798-49224798
13 CACNA1F NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) SNV Likely pathogenic 374004 rs1057518829 GRCh37: X:49086805-49086805
GRCh38: X:49230343-49230343
14 CACNA1F NM_001256789.3(CACNA1F):c.818-820del Deletion Likely pathogenic 988791 GRCh37: X:49085729-49085729
GRCh38: X:49229267-49229267
15 CACNA1F NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) SNV Likely pathogenic 988786 GRCh37: X:49088170-49088170
GRCh38: X:49231708-49231708
16 CACNA1F NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg) SNV Likely pathogenic 988788 GRCh37: X:49079491-49079491
GRCh38: X:49223032-49223032
17 CACNA1F NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp) SNV Likely pathogenic 988789 GRCh37: X:49072896-49072896
GRCh38: X:49216436-49216436
18 CACNA1F NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=) SNV Uncertain significance 982693 GRCh37: X:49081414-49081414
GRCh38: X:49224952-49224952
19 CACNA1F NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) SNV Uncertain significance 930750 GRCh37: X:49079537-49079537
GRCh38: X:49223078-49223078
20 CACNA1F NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) SNV Uncertain significance 931151 GRCh37: X:49075829-49075829
GRCh38: X:49219370-49219370
21 CACNA1F NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) SNV Uncertain significance 259657 rs141010716 GRCh37: X:49081230-49081230
GRCh38: X:49224768-49224768
22 CACNA1F NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe) SNV Uncertain significance 430654 rs1344295491 GRCh37: X:49079540-49079540
GRCh38: X:49223081-49223081
23 CACNA1F NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) SNV Uncertain significance 587564 rs782458308 GRCh37: X:49084508-49084508
GRCh38: X:49228046-49228046
24 CACNA1F NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) SNV Likely benign 283388 rs141159097 GRCh37: X:49079179-49079179
GRCh38: X:49222720-49222720
25 CACNA1F NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) SNV Likely benign 402468 rs34162630 GRCh37: X:49082499-49082499
GRCh38: X:49226037-49226037

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type 2a:

72 (show all 19)
# Symbol AA change Variation ID SNP ID
1 CACNA1F p.Gly369Asp VAR_001504 rs122456133
2 CACNA1F p.Arg519Gln VAR_001505 rs34162630
3 CACNA1F p.Arg1060Trp VAR_001506
4 CACNA1F p.Leu1375His VAR_001507
5 CACNA1F p.Cys74Arg VAR_030808
6 CACNA1F p.Gly150Arg VAR_030809
7 CACNA1F p.Ser229Pro VAR_030810
8 CACNA1F p.Gly261Arg VAR_030811
9 CACNA1F p.Gly674Asp VAR_030813
10 CACNA1F p.Phe753Cys VAR_030814
11 CACNA1F p.Ile756Thr VAR_030815 rs122456136
12 CACNA1F p.Leu860Pro VAR_030816
13 CACNA1F p.Ala928Asp VAR_030817
14 CACNA1F p.Gly1018Arg VAR_030818 rs124943716
15 CACNA1F p.Leu1079Pro VAR_030819
16 CACNA1F p.Cys1499Arg VAR_030820
17 CACNA1F p.Pro1500Arg VAR_030821
18 CACNA1F p.Leu1508Pro VAR_030822
19 CACNA1F p.Gly603Arg VAR_071433 rs201654095

Expression for Night Blindness, Congenital Stationary, Type 2a

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 2a.

Pathways for Night Blindness, Congenital Stationary, Type 2a

Pathways related to Night Blindness, Congenital Stationary, Type 2a according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 PRKCA PCLO GPX3 GNA11 CACNA1F
2
Show member pathways
12.61 PRKCA GRK1 GNA15 GNA11 CACNA1F
3
Show member pathways
12.24 PRKCA GNA11 EDN2 CACNA1F
4
Show member pathways
12.15 PRKCA GNAT2 GNA15 GNA11
5
Show member pathways
12.14 PRKCA GNAT2 GNA15 GNA11 CACNA1F
6 12.13 PRKCA GNAT2 GNA15 GNA11
7 12.05 PRKCA GNA15 GNA11 CACNA1F
8
Show member pathways
11.98 STXBP1 PRKCA GNA15 GNA11
9
Show member pathways
11.8 PRKCA GNA15 GNA11
10 11.69 PRKCA GNA15 GNA11
11
Show member pathways
11.63 PRKCA PDE6H PDE6B GRK1 GNAT2 ARR3
12 11.24 PRKCA GNA11 CACNA1F
13 11.14 PRKCA PDE6B GRK1 GNAT2 GNA15 GNA11
14
Show member pathways
10.73 GNA15 GNA11

GO Terms for Night Blindness, Congenital Stationary, Type 2a

Cellular components related to Night Blindness, Congenital Stationary, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 9.33 GNAT2 GNA15 GNA11
2 photoreceptor disc membrane GO:0097381 9.32 PDE6B GRK1
3 presynaptic active zone cytoplasmic component GO:0098831 9.26 PCLO CTBP2
4 photoreceptor outer segment membrane GO:0042622 9.13 PDE6H PDE6B GNAT2
5 photoreceptor outer segment GO:0001750 9.1 PDE6B GRK1 GNAT2 GNA11 CACNA1F ARR3

Biological processes related to Night Blindness, Congenital Stationary, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.61 PRKCA GNA15 GNA11
2 response to stimulus GO:0050896 9.56 PDE6H PDE6B NYX GRK1 GNAT2 CRYAA
3 detection of light stimulus involved in visual perception GO:0050908 9.48 GNAT2 CACNA1F
4 action potential GO:0001508 9.46 GNA15 GNA11
5 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.43 GNAT2 GNA15 GNA11
6 rhodopsin mediated signaling pathway GO:0016056 9.4 PDE6B GRK1
7 phototransduction, visible light GO:0007603 9.37 PDE6B GNA11
8 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.32 GNA15 GNA11
9 visual perception GO:0007601 9.32 PDE6H PDE6B NYX GRK1 GNAT2 CRYGB
10 maintenance of presynaptic active zone structure GO:0048790 9.16 PCLO CTBP2

Molecular functions related to Night Blindness, Congenital Stationary, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.73 MMUT GNAT2 GNA15 GNA11
2 structural constituent of eye lens GO:0005212 9.43 CRYGB CRYBA1 CRYAA
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.4 PDE6H PDE6B
4 structural constituent of presynaptic active zone GO:0098882 9.37 PCLO CTBP2
5 G-protein beta/gamma-subunit complex binding GO:0031683 9.33 GNAT2 GNA15 GNA11
6 type 2A serotonin receptor binding GO:0031826 9.32 GNA15 GNA11
7 guanyl nucleotide binding GO:0019001 9.13 GNAT2 GNA15 GNA11
8 G protein-coupled receptor binding GO:0001664 8.92 GNAT2 GNA15 GNA11 ARR3

Sources for Night Blindness, Congenital Stationary, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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