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
achromatopsia 2
Summary
- Synonym
-
- ACHM2
- RMCH2
- rod monochromacy 2
- rod monochromatism 2
- Definition
- An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.
- Super Class
- achromatopsia autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110007
- Mondo Disease Ontology
- MeSH
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16281 | Cyclic nucleotide-gated channel alpha-3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9JJZ8 | Cyclic nucleotide-gated channel alpha-3 |
