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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 | 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 |
| C0342788 | Renal carnitine transport defect | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0342788 | Renal carnitine transport defect | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342788 | Renal carnitine transport defect | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0342788 | Renal carnitine transport defect | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0342788 | Renal carnitine transport defect | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0342788 | Renal carnitine transport defect | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0342788 | Renal carnitine transport defect | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0342788 | Renal carnitine transport defect | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0342788 | Renal carnitine transport defect | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0342788 | Renal carnitine transport defect | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
