nyctalopin

Summary
Gene Symbol
  • NYX
Aliases
  • CLRP
  • CSNB1A
Organism
Homo sapiens (human)
External Links
NCBI Gene
60506
HGNC
8082
KEGG Gene ID
hsa:60506
PubChem
60506
Alliance of Genome Resources
Annotation
Keyword
  • Congenital stationary night blindness
  • Disease variant
  • Extracellular matrix
  • Leucine-rich repeat
  • Proteoglycan
  • Reference proteome
  • Repeat
  • Signal
  • Vision
Proteins
Displaying 1 entry
UniProt Protein Name
Q9GZU5
KEGG BRITE Database
Orthology
K08129
Name
nyctalopin
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 36 in total
DO ID Disease Name Source
DOID:9650 pathologic nystagmus
DOID:9837 hypertropia
DOID:0050534 congenital stationary night blindness
DOID:0050572 cone-rod dystrophy
DOID:0050817 Stargardt disease
DOID:0060215 Balo concentric sclerosis
DOID:0090059 enhanced S-cone syndrome
DOID:0110008 achromatopsia 3
DOID:0110078 Leber congenital amaurosis 1
DOID:0110865 congenital stationary night blindness 1B
The Human Phenotype Ontology
Displaying entries 1 - 10 of 14 in total
HPO ID HPO Term
HP:0000486 Strabismus
HP:0000540 Hypermetropia
HP:0000545 Myopia
HP:0000551 Color vision defect
HP:0000639 Nystagmus
HP:0000662 Nyctalopia
HP:0001419 X-linked recessive inheritance
HP:0007642 Congenital stationary night blindness
HP:0007663 Reduced visual acuity
HP:0007703 Abnormality of retinal pigmentation
Displaying all 2 entries
Disease ID Disease Name
OMIM:310500
  • congenital stationary night blindness 1A
ORPHA:215
  • X-linked congenital stationary night blindness
  • congenital stationary night blindness

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024