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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 |
|---|---|---|---|---|---|
| C0007124 | Noninfiltrating Intraductal Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0751748 | Nonketotic Hyperglycinemia | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0751748 | Nonketotic Hyperglycinemia | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0751748 | Nonketotic Hyperglycinemia | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0751748 | Nonketotic Hyperglycinemia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0751748 | Nonketotic Hyperglycinemia | GCSH | 2653 | glycine cleavage system protein H | P23434 |
| C0751748 | Nonketotic Hyperglycinemia | AMT | 275 | aminomethyltransferase | P48728 |
| C0751748 | Nonketotic Hyperglycinemia | GLDC | 2731 | glycine decarboxylase | P23378 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3501843 | Nonmedullary Thyroid Carcinoma | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3888391 | Nonnuclear polymorphic congenital cataract | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C3888391 | Nonnuclear polymorphic congenital cataract | LGALS1 | 3956 | galectin 1 | P09382 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C3888391 | Nonnuclear polymorphic congenital cataract | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C3888391 | Nonnuclear polymorphic congenital cataract | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0004606 | Nonproliferative diabetic retinopathy | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004606 | Nonproliferative diabetic retinopathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
