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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 |
|---|---|---|---|---|---|
| C0342788 | Renal carnitine transport defect | SFTPD | 6441 | surfactant protein D | P35247 |
| C0342788 | Renal carnitine transport defect | SCD5 | 79966 | stearoyl-CoA desaturase 5 | Q86SK9 |
| C0342788 | Renal carnitine transport defect | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C3887499 | Renal cyst | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C3887499 | Renal cyst | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C3887499 | Renal cyst | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C3887499 | Renal cyst | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C3887499 | Renal cyst | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C3887499 | Renal cyst | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3887499 | Renal cyst | CEL | 1056 | carboxyl ester lipase | P19835 |
| C3887499 | Renal cyst | FH | 2271 | fumarate hydratase | P07954 |
| 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 |
| C1408247 | Renal disease (acute) NOS | KHK | 3795 | ketohexokinase | P50053 |
| C3536714 | Renal dysplasia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3536714 | Renal dysplasia | FKTN | 2218 | fukutin | O75072 |
| C3536714 | Renal dysplasia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
