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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
oculocutaneous albinism
Summary
- Definition
- A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050632
- Mondo Disease Ontology
-
- MONDO:0007862
- MONDO:0008244
- MONDO:0008670
- MONDO:0008962
- MONDO:0008963
- MONDO:0009196
- MONDO:0009767
- MONDO:0011872
- MONDO:0011997
- MONDO:0012220
- MONDO:0013559
- MONDO:0013560
- MONDO:0013606
- MONDO:0016501
- MONDO:0016502
- MONDO:0017305
- MONDO:0018094
- MONDO:0018133
- MONDO:0018306
- MONDO:0018910
- MONDO:0019312
- MONDO:0019517
- MONDO:0043209
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 811 | CALR | calreticulin | |
| 821 | CANX | calnexin | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22304 | Iduronate 2-sulfatase | |
| P27797 | Calreticulin | |
| P27824 | Calnexin | |
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN |
