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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 |
|---|---|---|---|---|---|
| C3887551 | Memory dysfunction | KL | 9365 | klotho | Q9UEF7 |
| C3887551 | Memory dysfunction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3887551 | Memory dysfunction | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C3887551 | Memory dysfunction | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3887551 | Memory dysfunction | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C3887551 | Memory dysfunction | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C3887551 | Memory dysfunction | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3887551 | Memory dysfunction | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3887551 | Memory dysfunction | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3887551 | Memory dysfunction | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | LPIN1 | 23175 | lipin 1 | Q14693 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| 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 |
