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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 |
|---|---|---|---|
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 9514 | GAL3ST1 | galactose-3-O-sulfotransferase 1 | |
| 9563 | H6PD | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | |
| 10559 | SLC35A1 | solute carrier family 35 member A1 | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 27255 | CNTN6 | contactin 6 | |
| 56963 | RGMA | repulsive guidance molecule BMP co-receptor a | |
| 93589 | CACNA2D4 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P78382 | CMP-sialic acid transporter | |
| Q7Z3S7 | Voltage-dependent calcium channel subunit alpha-2/delta-4 | |
| Q96B86 | Repulsive guidance molecule A | |
| Q99999 | Galactosylceramide sulfotransferase | |
| Q9GZR5 | Very long chain fatty acid elongase 4 | |
| Q9P232 | Contactin-3 | |
| Q9UQ52 | Contactin-6 | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
- 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 |
