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cataract 2 multiple types
Summary
- Synonym
-
- CTRCT2
- cataract 2 multiple types with or without microcornea
- Definition
- A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33.
- Super Class
- autosomal dominant disease cataract
External Links
- Disease Ontology
- DOID:0110235
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6652 | SORD | sorbitol dehydrogenase | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 51084 | CRYL1 | crystallin lambda 1 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 55750 | AGK | acylglycerol kinase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01968 | Inositol polyphosphate 5-phosphatase OCRL | |
| Q8N0V5 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase | |
| Q9NRA2 | Sialin | |
| Q9Y2S2 | Lambda-crystallin homolog |
