congenital stationary night blindness 2A

Summary
Synonym
  • congenital stationary night blindness 2A X-linked
Definition
A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.
Super Class
X-linked recessive disease congenital stationary night blindness
Disease Ontology
DOID:0110871
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
778 CACNA1F calcium voltage-gated channel subunit alpha1 F
Displaying 1 entry
Gene ID Gene Symbol Description Source
54652 Cacna1f calcium channel, voltage-dependent, alpha 1F subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
114493 Cacna1f calcium voltage-gated channel subunit alpha1 F
Displaying 1 entry
Gene ID Gene Symbol Description Source
34950 Ca-alpha1D Ca[2+]-channel protein alpha[[1]] subunit D
Displaying 1 entry
Gene ID Gene Symbol Description Source
559964 cacna1fb calcium channel, voltage-dependent, L type, alpha 1F subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100462913 cacna1f.L calcium channel, voltage-dependent, L type, alpha 1F subunit L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying all 9 entries
HPO ID HPO Term
HP:0000551 Color vision defect
HP:0007703 Abnormality of retinal pigmentation
HP:0000540 Hypermetropia
HP:0000662 Nyctalopia
HP:0000486 Strabismus
HP:0007663 Reduced visual acuity
HP:0000545 Myopia
HP:0007984 Electronegative electroretinogram
HP:0000639 Nystagmus
Displaying all 3 entries
Gene ID Gene Symbol Description
5158 PDE6B phosphodiesterase 6B
60506 NYX nyctalopin
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4

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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: December 9, 2024