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cataract 4 multiple types
Summary
- Synonym
-
- CTRCT4
- cataract 4 multiple types with or without microcornea
- Definition
- A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.
- Super Class
- autosomal dominant disease cataract
External Links
- Disease Ontology
- DOID:0110234
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 2262 | GPC5 | glypican 5 | |
| 2584 | GALK1 | galactokinase 1 | |
| 2651 | GCNT2 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3956 | LGALS1 | galectin 1 | |
| 4047 | LSS | lanosterol synthase | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P78333 | Glypican-5 | |
| Q00796 | Sorbitol dehydrogenase | |
| Q01968 | Inositol polyphosphate 5-phosphatase OCRL | |
| Q8N0V5 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase | |
| Q9Y2S2 | Lambda-crystallin homolog |
