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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 |
|---|---|---|---|---|---|
| C0010038 | Corneal Opacity | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0010038 | Corneal Opacity | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0010038 | Corneal Opacity | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0010038 | Corneal Opacity | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0010038 | Corneal Opacity | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0010038 | Corneal Opacity | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010043 | Corneal Ulcer | LGALS3 | 3958 | galectin 3 | P17931 |
| C0010043 | Corneal Ulcer | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0010043 | Corneal Ulcer | SFTPD | 6441 | surfactant protein D | P35247 |
| C0010043 | Corneal Ulcer | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0010043 | Corneal Ulcer | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0010043 | Corneal Ulcer | AMT | 275 | aminomethyltransferase | P48728 |
| C0010043 | Corneal Ulcer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010051 | Coronary Aneurysm | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0010051 | Coronary Aneurysm | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0010051 | Coronary Aneurysm | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0010051 | Coronary Aneurysm | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0010051 | Coronary Aneurysm | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0010051 | Coronary Aneurysm | SRGN | 5552 | serglycin | P10124 |
| C0010051 | Coronary Aneurysm | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0010051 | Coronary Aneurysm | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0010051 | Coronary Aneurysm | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0010051 | Coronary Aneurysm | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0010054 | Coronary Arteriosclerosis | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0010054 | Coronary Arteriosclerosis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
