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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 |
|---|---|---|---|---|---|
| C0686347 | Tardive Dyskinesia | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C0039292 | Tangier Disease | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0039292 | Tangier Disease | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0039292 | Tangier Disease | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C0039292 | Tangier Disease | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0039292 | Tangier Disease | GPLD1 | 2822 | glycosylphosphatidylinositol specific phospholipase D1 | P80108 |
| C1301937 | Talipes | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1301937 | Talipes | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1301937 | Talipes | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C1301937 | Talipes | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1301937 | Talipes | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1301937 | Talipes | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1301937 | Talipes | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0039263 | Takayasu Arteritis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0039263 | Takayasu Arteritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0039263 | Takayasu Arteritis | SELP | 6403 | selectin P | P16109 |
| C0039263 | Takayasu Arteritis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0039263 | Takayasu Arteritis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0039263 | Takayasu Arteritis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0039263 | Takayasu Arteritis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0039263 | Takayasu Arteritis | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0042514 | Tachycardia, Ventricular | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0042514 | Tachycardia, Ventricular | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0042514 | Tachycardia, Ventricular | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0042514 | Tachycardia, Ventricular | CALR | 811 | calreticulin | P27797 |
