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cataract 13 with adult i phenotype
Summary
- Synonym
-
- CTRCT13
- Definition
- A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
- Super Class
- autosomal recessive disease cataract
External Links
- Disease Ontology
- DOID:0110242
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 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) | |
| 4047 | LSS | lanosterol synthase | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6652 | SORD | sorbitol dehydrogenase | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 432177 | gcnt2.2.S | glucosaminyl (N-acetyl) transferase 2 (I blood group), gene 2 S homeolog | Xenopus laevis (African clawed frog) | |
| 432275 | gcnt2.2.L | glucosaminyl (N-acetyl) transferase 2 (I blood group), gene 2 L homeolog | Xenopus laevis (African clawed frog) | |
| 100038221 | gcnt2.2 | glucosaminyl (N-acetyl) transferase 2 (I blood group), gene 2 | Xenopus tropicalis (tropical clawed frog) |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000519 | Developmental cataract |
