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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 |
|---|---|---|---|---|---|
| C0600452 | Hepatopulmonary Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0600452 | Hepatopulmonary Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0600452 | Hepatopulmonary Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0600502 | Vascular Hemostatic Disorders | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0677055 | CARCINOMA OF VULVA | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0677055 | CARCINOMA OF VULVA | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0677055 | CARCINOMA OF VULVA | DCN | 1634 | decorin | P07585 |
| C0677055 | CARCINOMA OF VULVA | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0677055 | CARCINOMA OF VULVA | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0677055 | CARCINOMA OF VULVA | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0677483 | Carcinoma testes | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0677501 | Congenital Nephrogenic Diabetes Insipidus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0677607 | Hashimoto Disease | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C0677607 | Hashimoto Disease | CD38 | 952 | CD38 molecule | P28907 |
| C0677607 | Hashimoto Disease | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0677607 | Hashimoto Disease | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0677607 | Hashimoto Disease | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0677607 | Hashimoto Disease | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0677607 | Hashimoto Disease | LGALS3 | 3958 | galectin 3 | P17931 |
| C0677607 | Hashimoto Disease | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0677607 | Hashimoto Disease | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0677607 | Hashimoto Disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0677607 | Hashimoto Disease | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0677607 | Hashimoto Disease | CD14 | 929 | CD14 molecule | P08571 |
| C0677607 | Hashimoto Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
