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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0022602 | Actinic keratosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0022602 | Actinic keratosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022596 | Palmoplantar Keratosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0022596 | Palmoplantar Keratosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0022596 | Palmoplantar Keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022596 | Palmoplantar Keratosis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0022596 | Palmoplantar Keratosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0022595 | Keratosis Follicularis | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0022595 | Keratosis Follicularis | CANX | 821 | calnexin | P27824 |
| C0022595 | Keratosis Follicularis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0022595 | Keratosis Follicularis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0022595 | Keratosis Follicularis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0022595 | Keratosis Follicularis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0022595 | Keratosis Follicularis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022593 | Keratosis | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0022593 | Keratosis | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0022593 | Keratosis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0022593 | Keratosis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0022593 | Keratosis | CAT | 847 | catalase | P04040 |
| C0022593 | Keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022578 | Keratoconus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0022578 | Keratoconus | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0022578 | Keratoconus | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0022578 | Keratoconus | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0022578 | Keratoconus | HPSE | 10855 | heparanase | Q9Y251 |
