CSNB1E
MCID: NGH029
MIFTS: 37

Night Blindness, Congenital Stationary, Type 1e (CSNB1E)

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

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1e

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1e:

Name: Night Blindness, Congenital Stationary, Type 1e 57 70
Night Blindness, Congenital Stationary , 1e, Autosomal Recessive 57 29 13
Csnb1e 57 12 72
Congenital Stationary Night Blindness, Type 1e 29 6
Congenital Stationary Night Blindness 1e Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1e 39
Night Blindness, Congenital Stationary, Type 1 6
Night Blindness, Congenital Stationary, 1e 72
Congenital Stationary Night Blindness 1e 12
Csnb, Complete, Autosomal Recessive 57
Complete Autosomal Recessive Csnb 72
Csnb1 54

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
night blindness, congenital stationary, type 1e:
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110869
OMIM® 57 614565
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
MedGen 41 C3281215
UMLS 70 C3281215

Summaries for Night Blindness, Congenital Stationary, Type 1e

OMIM® : 57 Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by Peachey et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). (614565) (Updated 20-May-2021)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1e, also known as night blindness, congenital stationary , 1e, autosomal recessive, is related to night blindness, congenital stationary, type 1b and night blindness, congenital stationary, type 1c. An important gene associated with Night Blindness, Congenital Stationary, Type 1e is GPR179 (G Protein-Coupled Receptor 179). Affiliated tissues include eye and retina, and related phenotypes are strabismus and nystagmus

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, 1E: An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b- wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells.

Related Diseases for Night Blindness, Congenital Stationary, Type 1e

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 1e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 1b 31.4 NYX GPR179 CACNA1F
2 night blindness, congenital stationary, type 1c 31.2 NYX GPR179 CACNA1F
3 congenital stationary night blindness 30.7 NYX NLRP12 GPR179 CACNA1F
4 night blindness, congenital stationary, type 1a 30.7 NYX GPR179 CACNA1F
5 night blindness 29.7 NYX GPR179 CACNA1F
6 x-linked congenital stationary night blindness 29.4 NYX NLRP12 CACNA1F
7 achromatopsia 29.4 NYX CACNA1F
8 night blindness, congenital stationary, type 2a 29.3 NYX CACNA1F
9 myopia 29.3 NYX CACNA1F
10 night blindness, congenital stationary, type 1d 11.3
11 night blindness, congenital stationary, type 1f 11.3
12 nystagmus 1, congenital, x-linked 10.9
13 yemenite deaf-blind hypopigmentation syndrome 10.3
14 keratoconus 10.0
15 myopia 1, x-linked 9.9
16 astigmatism 9.9
17 irregular astigmatism 9.9
18 hereditary retinal dystrophy 9.9
19 abnormal threshold of rods 9.8 GPR179 CACNA1F
20 cone-rod dystrophy, x-linked, 3 9.7 NYX CACNA1F
21 achromatopsia 3 9.7 NYX CACNA1F
22 oguchi disease 9.7 NYX CACNA1F
23 aland island eye disease 9.6 NYX CACNA1F
24 retinoschisis 1, x-linked, juvenile 9.6 NYX CACNA1F
25 retinal disease 9.5 NYX CACNA1F
26 pathologic nystagmus 9.4 NYX GPR179 CACNA1F
27 fundus dystrophy 9.3 NYX GPR179 CACNA1F

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



Diseases related to Night Blindness, Congenital Stationary, Type 1e

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1e

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1e:

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 occasional (7.5%) HP:0000486
2 nystagmus 31 HP:0000639
3 myopia 31 HP:0000545
4 reduced visual acuity 31 HP:0007663
5 congenital stationary night blindness 31 HP:0007642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
decreased visual acuity
strabismus (in some patients)
night blindness, congenital
absent or reduced b-wave on electroretinography
myopia, mild to severe
more

Clinical features from OMIM®:

614565 (Updated 20-May-2021)

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1e

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1e

Genetic Tests for Night Blindness, Congenital Stationary, Type 1e

Genetic tests related to Night Blindness, Congenital Stationary, Type 1e:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1e 29 GPR179
2 Night Blindness, Congenital Stationary (complete), 1e, Autosomal Recessive 29

Anatomical Context for Night Blindness, Congenital Stationary, Type 1e

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1e:

40
Eye, Retina

Publications for Night Blindness, Congenital Stationary, Type 1e

Articles related to Night Blindness, Congenital Stationary, Type 1e:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 6 57
22325361 2012
2
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 57 6
22325362 2012
3
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 6 61 54
11062471 2000
4
CSNB1 in Chinese families associated with novel mutations in NYX. 6 61
16670814 2006
5
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 6 61
11062472 2000
6
Scotopic threshold response in complete and incomplete types of congenital stationary night blindness. 57
8088964 1994
7
Mutations in NYX of individuals with high myopia, but without night blindness. 54 61
17392683 2007
8
Localization of nyctalopin in the mammalian retina. 61 54
16553780 2006
9
Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick. 61 54
16261423 2005
10
Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. 61 54
15331616 2005
11
Multifocal oscillatory potentials in CSNB1 and CSNB2 type congenital stationary night blindness. 54 61
15583843 2005
12
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. 61 54
14507859 2003
13
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. 61 54
12714669 2003
14
[Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness]. 54 61
12610835 2002
15
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. 61 54
12397430 2002
16
Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. 61 54
11581222 2001
17
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders. 61 54
11408949 2001
18
[Multimodal diagnostic of CSNB1 with NYX gene mutation]. 61
30980176 2019
19
Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness. 61
28512427 2017
20
Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness. 61
27803854 2016
21
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. 61
26310623 2015
22
NYX mutations in four families with high myopia with or without CSNB1. 61
25802485 2015
23
Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness. 61
24397708 2014
24
Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model. 61
24084093 2013
25
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 61
23714322 2013
26
Assessment of night vision problems in patients with congenital stationary night blindness. 61
23658786 2013
27
An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. 61
21947599 2011
28
Contribution of post-receporal cells to the cone a-wave of the human electroretinogram in congenital stationary night blindness and autoimmune-like retinopathy. 61
20800609 2010
29
TRPM1 mutations are associated with the complete form of congenital stationary night blindness. 54
20300565 2010
30
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 54
19896113 2009
31
Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. 61
19666700 2009
32
Keratoconus associated with congenital stationary night blindness type 1. 61
21686418 2009
33
Keratoconus associated with CSNB1. 61
21686588 2009
34
Postreceptoral contributions to the light-adapted ERG of mice lacking b-waves. 61
18440505 2008
35
High susceptibility to experimental myopia in a mouse model with a retinal on pathway defect. 61
18235018 2008
36
Nystagmus characteristics in congenital stationary night blindness (CSNB). 61
18227204 2008
37
Clinical and genetic characterization of a Chinese family with CSNB1. 61
18188951 2008
38
Keratoconus associated with CSNB1. 61
17179126 2007
39
Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. 61
17004930 2006
40
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. 61
16249515 2005
41
[Molecular genetic study of congenital stationary night blindness]. 54
15584351 2004
42
Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness. 61
14661905 2003
43
A potential spontaneous rat model of X-linked congenital stationary night blindness. 61
12906122 2003
44
Identification of the gene and the mutation responsible for the mouse nob phenotype. 61
12506099 2003
45
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 54
12187427 2002
46
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction. 61
11874764 2002
47
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity. 61
11172618 2001
48
Large-scale analysis of sequence tags in Xp11.4-11.3 and evaluation of candidate genes for X-linked ocular diseases. 61
14564067 2001
49
Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. 61
10982042 2000
50
Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome. 61
10509675 1999

Variations for Night Blindness, Congenital Stationary, Type 1e

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1e:

6 (show top 50) (show all 231)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NYX NYX, 24-BP DEL Deletion Pathogenic 11420 GRCh37:
GRCh38:
2 NYX NM_022567.2(NYX):c.1049G>A (p.Trp350Ter) SNV Pathogenic 11421 rs62637037 GRCh37: X:41333755-41333755
GRCh38: X:41474502-41474502
3 NYX NM_022567.2(NYX):c.105C>A (p.Cys35Ter) SNV Pathogenic 11422 rs62637021 GRCh37: X:41332811-41332811
GRCh38: X:41473558-41473558
4 NYX NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) Indel Pathogenic 11423 rs62637027 GRCh37: X:41333265-41333266
GRCh38: X:41474012-41474013
5 NYX NM_022567.2(NYX):c.281G>C (p.Arg94Pro) SNV Pathogenic 11424 rs104894910 GRCh37: X:41332987-41332987
GRCh38: X:41473734-41473734
6 NYX NM_022567.2(NYX):c.302T>C (p.Ile101Thr) SNV Pathogenic 11425 rs104894911 GRCh37: X:41333008-41333008
GRCh38: X:41473755-41473755
7 GPR179 NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr) SNV Pathogenic 31200 rs281875234 GRCh37: 17:36489899-36489899
GRCh38: 17:38334016-38334016
8 GPR179 NM_001004334.4(GPR179):c.278del (p.Pro93fs) Deletion Pathogenic 31201 rs794726685 GRCh37: 17:36499395-36499395
GRCh38: 17:38343512-38343512
9 GPR179 NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter) SNV Pathogenic 31202 rs387907138 GRCh37: 17:36499075-36499075
GRCh38: 17:38343192-38343192
10 GPR179 NM_001004334.4(GPR179):c.1784+1G>A SNV Pathogenic 31203 rs773126191 GRCh37: 17:36490586-36490586
GRCh38: 17:38334703-38334703
11 GPR179 NM_001004334.4(GPR179):c.187del (p.Leu63fs) Deletion Pathogenic 31205 rs794726686 GRCh37: 17:36499486-36499486
GRCh38: 17:38343603-38343603
12 GPR179 NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) SNV Pathogenic 31206 rs281875236 GRCh37: 17:36499014-36499014
GRCh38: 17:38343131-38343131
13 GPR179 NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs) Duplication Pathogenic 599074 rs1567728372 GRCh37: 17:36498892-36498893
GRCh38: 17:38343009-38343010
14 GPR179 NM_001004334.4(GPR179):c.3841C>T (p.Gln1281Ter) SNV Pathogenic 997586 GRCh37: 17:36485611-36485611
GRCh38: 17:38329728-38329728
15 GPR179 NM_001004334.4(GPR179):c.2427dup (p.Pro810fs) Duplication Pathogenic 426625 rs757246221 GRCh37: 17:36487024-36487025
GRCh38: 17:38331141-38331142
16 GPR179 NM_001004334.4(GPR179):c.5763_5764del (p.Lys1921fs) Deletion Pathogenic 1028909 GRCh37: 17:36483688-36483689
GRCh38: 17:38327805-38327806
17 GPR179 NM_001004334.4(GPR179):c.5922_5925del (p.Arg1974fs) Microsatellite Pathogenic 1028910 GRCh37: 17:36483527-36483530
GRCh38: 17:38327644-38327647
18 GPR179 NM_001004334.4(GPR179):c.5999G>A (p.Trp2000Ter) SNV Pathogenic 1028911 GRCh37: 17:36483453-36483453
GRCh38: 17:38327570-38327570
19 GPR179 NM_001004334.4(GPR179):c.1368del (p.Phe456fs) Deletion Pathogenic 1031694 GRCh37: 17:36491512-36491512
GRCh38: 17:38335629-38335629
20 GPR179 NM_001004334.4(GPR179):c.3473dup (p.Asn1158fs) Duplication Pathogenic 1031695 GRCh37: 17:36485978-36485979
GRCh38: 17:38330095-38330096
21 GPR179 NM_001004334.4(GPR179):c.4550dup (p.Met1517fs) Duplication Pathogenic 1031696 GRCh37: 17:36484901-36484902
GRCh38: 17:38329018-38329019
22 GPR179 NM_001004334.4(GPR179):c.4867del (p.Met1623fs) Deletion Pathogenic 1031697 GRCh37: 17:36484585-36484585
GRCh38: 17:38328702-38328702
23 GPR179 NM_001004334.4(GPR179):c.3136_3137GA[1] (p.Glu1046fs) Microsatellite Pathogenic 667427 rs776189685 GRCh37: 17:36486313-36486314
GRCh38: 17:38330430-38330431
24 NYX NM_001378477.1(NYX):c.619_627dup (p.Arg207_Arg209dup) Duplication Likely pathogenic 931985 GRCh37: X:41333316-41333317
GRCh38: X:41474063-41474064
25 GPR179 NM_001004334.4(GPR179):c.1727del (p.Tyr576fs) Deletion Likely pathogenic 623175 rs1567725425 GRCh37: 17:36490644-36490644
GRCh38: 17:38334761-38334761
26 GPR179 NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) SNV Conflicting interpretations of pathogenicity 196293 rs189931659 GRCh37: 17:36493548-36493548
GRCh38: 17:38337665-38337665
27 GPR179 NM_001004334.4(GPR179):c.3656_3657del (p.Pro1219fs) Deletion Conflicting interpretations of pathogenicity 322995 rs779266036 GRCh37: 17:36485795-36485796
GRCh38: 17:38329912-38329913
28 GPR179 NM_001004334.4(GPR179):c.5606A>C (p.Gln1869Pro) SNV Conflicting interpretations of pathogenicity 522291 rs201516786 GRCh37: 17:36483846-36483846
GRCh38: 17:38327963-38327963
29 NYX NM_001378477.1(NYX):c.802C>G (p.Arg268Gly) SNV Uncertain significance 914666 GRCh37: X:41333508-41333508
GRCh38: X:41474255-41474255
30 GPR179 NM_001004334.4(GPR179):c.1217G>A (p.Arg406His) SNV Uncertain significance 323023 rs770208418 GRCh37: 17:36492871-36492871
GRCh38: 17:38336988-38336988
31 GPR179 NM_001004334.4(GPR179):c.989G>T (p.Gly330Val) SNV Uncertain significance 323026 rs372908857 GRCh37: 17:36493518-36493518
GRCh38: 17:38337635-38337635
32 GPR179 NM_001004334.4(GPR179):c.984del (p.Ser329fs) Deletion Uncertain significance 31204 rs770066665 GRCh37: 17:36493523-36493523
GRCh38: 17:38337640-38337640
33 GPR179 NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=) SNV Uncertain significance 497491 rs376750375 GRCh37: 17:36484394-36484394
GRCh38: 17:38328511-38328511
34 GPR179 NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) SNV Uncertain significance 193825 rs201086495 GRCh37: 17:36487042-36487042
GRCh38: 17:38331159-38331159
35 GPR179 NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=) SNV Uncertain significance 322974 rs185715311 GRCh37: 17:36483470-36483470
GRCh38: 17:38327587-38327587
36 GPR179 NM_001004334.4(GPR179):c.3568C>T (p.Arg1190Trp) SNV Uncertain significance 282574 rs200978744 GRCh37: 17:36485884-36485884
GRCh38: 17:38330001-38330001
37 GPR179 NM_001004334.4(GPR179):c.3474C>A (p.Asn1158Lys) SNV Uncertain significance 322998 rs755044433 GRCh37: 17:36485978-36485978
GRCh38: 17:38330095-38330095
38 GPR179 NM_001004334.4(GPR179):c.5119T>C (p.Trp1707Arg) SNV Uncertain significance 322980 rs769294419 GRCh37: 17:36484333-36484333
GRCh38: 17:38328450-38328450
39 GPR179 NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln) SNV Uncertain significance 197170 rs568763662 GRCh37: 17:36492868-36492868
GRCh38: 17:38336985-38336985
40 NYX NM_022567.2(NYX):c.582C>A (p.Ile194=) SNV Uncertain significance 596320 rs746383908 GRCh37: X:41333288-41333288
GRCh38: X:41474035-41474035
41 GPR179 NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln) SNV Uncertain significance 891076 GRCh37: 17:36487039-36487039
GRCh38: 17:38331156-38331156
42 GPR179 NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val) SNV Uncertain significance 891149 GRCh37: 17:36492955-36492955
GRCh38: 17:38337072-38337072
43 GPR179 NM_001004334.4(GPR179):c.3360_3361AG[2] (p.Ser1122fs) Microsatellite Uncertain significance 632280 rs1205982736 GRCh37: 17:36486087-36486088
GRCh38: 17:38330204-38330205
44 GPR179 NM_001004334.4(GPR179):c.278dup (p.Ser94fs) Duplication Uncertain significance 632281 rs794726685 GRCh37: 17:36499394-36499395
GRCh38: 17:38343511-38343512
45 NYX NM_001378477.1(NYX):c.*383G>T SNV Uncertain significance 913806 GRCh37: X:41334535-41334535
GRCh38: X:41475282-41475282
46 NYX NM_001378477.1(NYX):c.-42+99T>C SNV Uncertain significance 914163 GRCh37: X:41306868-41306868
GRCh38: X:41447615-41447615
47 NYX NM_001378477.1(NYX):c.*744C>T SNV Uncertain significance 914209 GRCh37: X:41334896-41334896
GRCh38: X:41475643-41475643
48 NYX NM_001378477.1(NYX):c.163C>T (p.Arg55Trp) SNV Uncertain significance 914661 GRCh37: X:41332869-41332869
GRCh38: X:41473616-41473616
49 NYX NM_001378477.1(NYX):c.383C>T (p.Ala128Val) SNV Uncertain significance 914663 GRCh37: X:41333089-41333089
GRCh38: X:41473836-41473836
50 NYX NM_001378477.1(NYX):c.660C>G (p.Ala220=) SNV Uncertain significance 914664 GRCh37: X:41333366-41333366
GRCh38: X:41474113-41474113

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

72
# Symbol AA change Variation ID SNP ID
1 GPR179 p.Asp126His VAR_067925 rs281875233
2 GPR179 p.Tyr220Cys VAR_067926 rs281875236
3 GPR179 p.Gly455Asp VAR_067927 rs281875235
4 GPR179 p.His603Tyr VAR_067928 rs281875234

Expression for Night Blindness, Congenital Stationary, Type 1e

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1e.

Pathways for Night Blindness, Congenital Stationary, Type 1e

GO Terms for Night Blindness, Congenital Stationary, Type 1e

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.8 NYX GPR179 CACNA1F

Sources for Night Blindness, Congenital Stationary, Type 1e

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
Content
Loading form....