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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 |
|---|---|---|---|---|---|
| C0085253 | Adult-Onset Still Disease | SELL | 6402 | selectin L | P14151 |
| C0085253 | Adult-Onset Still Disease | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0085253 | Adult-Onset Still Disease | GCK | 2645 | glucokinase | P35557 |
| C0752197 | Adult-Onset Dystonias | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0221056 | Adult type dermatomyositis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0221056 | Adult type dermatomyositis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0221056 | Adult type dermatomyositis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0221056 | Adult type dermatomyositis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0221056 | Adult type dermatomyositis | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0221056 | Adult type dermatomyositis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0221056 | Adult type dermatomyositis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0221056 | Adult type dermatomyositis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0221056 | Adult type dermatomyositis | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0221056 | Adult type dermatomyositis | SRGN | 5552 | serglycin | P10124 |
| C0221056 | Adult type dermatomyositis | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0221056 | Adult type dermatomyositis | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0221056 | Adult type dermatomyositis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0221056 | Adult type dermatomyositis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0221056 | Adult type dermatomyositis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C3164344 | Adult onset autosomal dominant leukodystrophy | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0268374 | Adult junctional epidermolysis bullosa (disorder) | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0268413 | Adult hypophosphatasia (disorder) | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0268413 | Adult hypophosphatasia (disorder) | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0268413 | Adult hypophosphatasia (disorder) | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C1332221 | Adult Yolk Sac Tumor | GPC3 | 2719 | glypican 3 | P51654 |
