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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 |
|---|---|---|---|---|---|
| C0270972 | Cornelia De Lange Syndrome | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0270972 | Cornelia De Lange Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0270972 | Cornelia De Lange Syndrome | TNKS | 8658 | tankyrase | O95271 |
| C0270972 | Cornelia De Lange Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0339273 | Corneal dystrophy, Lattice type 3 | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0010036 | Corneal dystrophy | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0010036 | Corneal dystrophy | GLA | 2717 | galactosidase alpha | P06280 |
| C0010036 | Corneal dystrophy | CTSA | 5476 | cathepsin A | P10619 |
| C0010036 | Corneal dystrophy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0010036 | Corneal dystrophy | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0010036 | Corneal dystrophy | STS | 412 | steroid sulfatase | P08842 |
| C0010036 | Corneal dystrophy | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0010036 | Corneal dystrophy | SELP | 6403 | selectin P | P16109 |
| 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 |
