Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60840 | Voltage-dependent L-type calcium channel subunit alpha-1F |
| UniProt ID | Protein Name | Source |
|---|---|---|
| B1AVA4 | Voltage-dependent L-type calcium channel subunit alpha |
- The Human Phenotype Ontology
| 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 |
