NYS1
MCID: CNG618
MIFTS: 16

Congenital Nystagmus 1 (NYS1)

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

Aliases & Classifications for Congenital Nystagmus 1

MalaCards integrated aliases for Congenital Nystagmus 1:

Name: Congenital Nystagmus 1 12 15
X-Linked Infantile Nystagmus 1 12
Congenital Motor Nystagmus 1 12
Nys1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111790

Summaries for Congenital Nystagmus 1

Disease Ontology : 12 A congenital nystagmus that has material basis in mutation in FRMD7 on chromosome Xq26.2.

MalaCards based summary : Congenital Nystagmus 1, also known as x-linked infantile nystagmus 1, is related to nystagmus 5, congenital, x-linked and x-linked infantile nystagmus. An important gene associated with Congenital Nystagmus 1 is FRMD7 (FERM Domain Containing 7).

Related Diseases for Congenital Nystagmus 1

Graphical network of the top 20 diseases related to Congenital Nystagmus 1:



Diseases related to Congenital Nystagmus 1

Symptoms & Phenotypes for Congenital Nystagmus 1

Drugs & Therapeutics for Congenital Nystagmus 1

Search Clinical Trials , NIH Clinical Center for Congenital Nystagmus 1

Genetic Tests for Congenital Nystagmus 1

Anatomical Context for Congenital Nystagmus 1

Publications for Congenital Nystagmus 1

Articles related to Congenital Nystagmus 1:

(show all 16)
# Title Authors PMID Year
1
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. 61
22490987 2012
2
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 61
21303855 2011
3
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 61
17397053 2007
4
Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). 61
11803490 2001
5
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. 61
10090899 1999
6
Monoclonal antibodies of three different immunoglobulin G isotypes produced by immunization with a synthetic peptide or native protein protect mice against challenge with Plasmodium yoelii sporozoites. 61
8500885 1993
7
Monoclonal, but not polyclonal, antibodies protect against Plasmodium yoelii sporozoites. 61
1988490 1991
8
Active and passive immunization against Plasmodium yoelii sporozoites. 61
1709834 1990
9
Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii. 61
2094581 1990
10
Evaluation of an in vitro assay aimed at measuring protective antibodies against sporozoites. 61
2094592 1990
11
[Genetic mapping of the NYS1 gene in Saccharomyces cerevisiae]. 61
2689284 1989
12
[Yeast resistance to polyene antibiotics. VII. The interaction of the mutant alleles of the nystatin resistance genes in Saccharomyces cerevisiae]. 61
3060398 1988
13
[Yeast resistance to polyene antibiotics. VI. Isolation and biochemical analysis of strains of Saccharomyces cerevisiae yeasts with mutations in the 2 nystatin-resistance genes]. 61
3281869 1988
14
Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens. 61
2434426 1987
15
[Yeast resistance to polyene antibiotics. IV. A study of the inheritance of changes in the sterol composition of Saccharomyces cerevisiae yeasts caused by mutations of nystatin resistance]. 61
3899859 1985
16
Nystatin-resistant mutants of yeast: alterations in sterol content. 61
5122815 1971

Variations for Congenital Nystagmus 1

Expression for Congenital Nystagmus 1

Search GEO for disease gene expression data for Congenital Nystagmus 1.

Pathways for Congenital Nystagmus 1

GO Terms for Congenital Nystagmus 1

Sources for Congenital Nystagmus 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
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44 MeSH
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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