Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Peters anomaly
Summary
- Definition
- A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
- Super Class
- corneal disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 2218 | FKTN | fukutin | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 6309 | SC5D | sterol-C5-desaturase | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 10682 | EBP | EBP cholestenol delta-isomerase |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000659 | Peters anomaly |
| HP:0011493 | Central opacification of the cornea |
| HP:0000523 | Subcapsular cataract |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0000486 | Strabismus |
| HP:0001087 | Developmental glaucoma |
| HP:0011483 | Anterior synechiae of the anterior chamber |
| HP:0000639 | Nystagmus |
