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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 |
|---|---|---|---|---|---|
| C2936694 | Swyer Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0334344 | Sweat gland adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0038874 | Supratentorial Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1336538 | Supratentorial Embryonal Tumor, Not Otherwise Specified | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0749163 | Supraglottic Squamous Cell Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0031024 | Suppurative Periapical Periodontitis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0031024 | Suppurative Periapical Periodontitis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1720864 | Sulfatidosis, Juvenile, Austin Type | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1720864 | Sulfatidosis, Juvenile, Austin Type | ARSA | 410 | arylsulfatase A | P15289 |
| C0038644 | Sudden infant death syndrome | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0038644 | Sudden infant death syndrome | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0038644 | Sudden infant death syndrome | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0038644 | Sudden infant death syndrome | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C0038644 | Sudden infant death syndrome | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0038644 | Sudden infant death syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0038644 | Sudden infant death syndrome | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0038644 | Sudden infant death syndrome | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0038644 | Sudden infant death syndrome | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0038644 | Sudden infant death syndrome | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0038644 | Sudden infant death syndrome | PRNP | 5621 | prion protein | P04156 |
| C0038644 | Sudden infant death syndrome | SFTPD | 6441 | surfactant protein D | P35247 |
| C0038644 | Sudden infant death syndrome | SI | 6476 | sucrase-isomaltase | P14410 |
| C0038644 | Sudden infant death syndrome | CD14 | 929 | CD14 molecule | P08571 |
| C0038644 | Sudden infant death syndrome | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0038644 | Sudden infant death syndrome | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
