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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 |
|---|---|---|---|---|---|
| C1336076 | Sporadic Breast Carcinoma | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C1336076 | Sporadic Breast Carcinoma | HSD17B2 | 3294 | hydroxysteroid 17-beta dehydrogenase 2 | P37059 |
| C1336076 | Sporadic Breast Carcinoma | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C1336076 | Sporadic Breast Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1336076 | Sporadic Breast Carcinoma | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0751484 | Sporadic Retinoblastoma | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0751484 | Sporadic Retinoblastoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0038034 | Sporotrichosis | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0038034 | Sporotrichosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0038034 | Sporotrichosis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0038034 | Sporotrichosis | CAT | 847 | catalase | P04040 |
| C0038041 | Spotted Fever Group Rickettsiosis | CS | 1431 | citrate synthase | O75390 |
| C0152438 | Sprengel deformity | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0206720 | Squamous Cell Neoplasms | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0206720 | Squamous Cell Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0240164 | Squamous Papilloma of the Larynx | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0007137 | Squamous cell carcinoma | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0007137 | Squamous cell carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0007137 | Squamous cell carcinoma | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0007137 | Squamous cell carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0007137 | Squamous cell carcinoma | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0007137 | Squamous cell carcinoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0007137 | Squamous cell carcinoma | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0007137 | Squamous cell carcinoma | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0007137 | Squamous cell carcinoma | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
