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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
exudative vitreoretinopathy 1
Summary
- Synonym
-
- EVR1
- Definition
- An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.
- Super Class
- autosomal dominant disease exudative vitreoretinopathy
External Links
- Disease Ontology
- DOID:0111412
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5716 | PSMD10 | proteasome 26S subunit, non-ATPase 10 | |
| 7108 | TM7SF2 | transmembrane 7 superfamily member 2 | |
| 10855 | HPSE | heparanase | |
| 27349 | MCAT | malonyl-CoA-acyl carrier protein transacylase | |
| 50999 | TMED5 | transmembrane p24 trafficking protein 5 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IVS2 | Malonyl-CoA-acyl carrier protein transacylase, mitochondrial | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
| Q9Y251 | Heparanase | |
| Q9Y3A6 | Transmembrane emp24 domain-containing protein 5 |
