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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0010038 | Corneal Opacity | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010038 | Corneal Opacity | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0010038 | Corneal Opacity | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0010038 | Corneal Opacity | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010038 | Corneal Opacity | FKTN | 2218 | fukutin | O75072 |
| C0010038 | Corneal Opacity | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0010038 | Corneal Opacity | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010038 | Corneal Opacity | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0010038 | Corneal Opacity | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0010038 | Corneal Opacity | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0010038 | Corneal Opacity | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0010038 | Corneal Opacity | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0010038 | Corneal Opacity | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
