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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 |
|---|---|---|---|---|---|
| C3887499 | Renal cyst | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3887499 | Renal cyst | GPC3 | 2719 | glypican 3 | P51654 |
| C3887499 | Renal cyst | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3887499 | Renal cyst | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C3887499 | Renal cyst | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C3887499 | Renal cyst | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3887499 | Renal cyst | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3887499 | Renal cyst | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3887499 | Renal cyst | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C3887499 | Renal cyst | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3887494 | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | LYZ | 4069 | lysozyme | P61626 |
| C3887494 | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C3887494 | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C3887461 | Head and Neck Carcinoma | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C3887461 | Head and Neck Carcinoma | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C3887461 | Head and Neck Carcinoma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C3887461 | Head and Neck Carcinoma | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C3887461 | Head and Neck Carcinoma | GALC | 2581 | galactosylceramidase | P54803 |
| C3887461 | Head and Neck Carcinoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C3887461 | Head and Neck Carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3887461 | Head and Neck Carcinoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C3887461 | Head and Neck Carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C3887461 | Head and Neck Carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3887461 | Head and Neck Carcinoma | ENO1 | 2023 | enolase 1 | P06733 |
| C3887461 | Head and Neck Carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
