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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| 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 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0007124 | Noninfiltrating Intraductal Carcinoma | SDC1 | 6382 | syndecan 1 | P18827 |
