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cone-rod dystrophy 2
Summary
- Synonym
-
- CORD2
- CRD2
- RCRD2
- cone-rod retinal dystrophy 2
- retinal cone-rod dystrophy 2
- Definition
- A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
- Super Class
- cone-rod dystrophy
External Links
- Disease Ontology
- DOID:0111005
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 239 | ALOX12 | arachidonate 12-lipoxygenase, 12S type | |
| 952 | CD38 | CD38 molecule | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 3290 | HSD11B1 | hydroxysteroid 11-beta dehydrogenase 1 | |
| 3956 | LGALS1 | galectin 1 | |
| 5067 | CNTN3 | contactin 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000551 | Color vision defect |
| HP:0000662 | Nyctalopia |
| HP:0000505 | Visual impairment |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000613 | Photophobia |
