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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 | 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 |
| C0010038 | Corneal Opacity | GLA | 2717 | galactosidase alpha | P06280 |
| C0010038 | Corneal Opacity | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0010038 | Corneal Opacity | GUSB | 2990 | glucuronidase beta | P08236 |
| C0010038 | Corneal Opacity | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0010038 | Corneal Opacity | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0010038 | Corneal Opacity | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0010038 | Corneal Opacity | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0010038 | Corneal Opacity | CTSA | 5476 | cathepsin A | P10619 |
| C0010038 | Corneal Opacity | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0010038 | Corneal Opacity | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0010038 | Corneal Opacity | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0010038 | Corneal Opacity | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0010038 | Corneal Opacity | STS | 412 | steroid sulfatase | P08842 |
| C0010038 | Corneal Opacity | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
