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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 |
|---|---|---|---|---|---|
| C1704380 | Distal Renal Tubular Acidosis | CANX | 821 | calnexin | P27824 |
| C1704417 | Hyperlipoproteinemia Type IIb | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1704417 | Hyperlipoproteinemia Type IIb | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C1704417 | Hyperlipoproteinemia Type IIb | LPL | 4023 | lipoprotein lipase | P06858 |
| C1704423 | Milroy Disease | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C1704423 | Milroy Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1704423 | Milroy Disease | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1704423 | Milroy Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1704429 | Hypoalphalipoproteinemia, Familial | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C1704430 | Urinary Schistosomiasis | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C1704430 | Urinary Schistosomiasis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1704430 | Urinary Schistosomiasis | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1704430 | Urinary Schistosomiasis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C1704436 | Peripheral Arterial Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1704436 | Peripheral Arterial Diseases | ARSA | 410 | arylsulfatase A | P15289 |
| C1704436 | Peripheral Arterial Diseases | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1704436 | Peripheral Arterial Diseases | CS | 1431 | citrate synthase | O75390 |
| C1704436 | Peripheral Arterial Diseases | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1704436 | Peripheral Arterial Diseases | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1704436 | Peripheral Arterial Diseases | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C1704436 | Peripheral Arterial Diseases | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C1704436 | Peripheral Arterial Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1704436 | Peripheral Arterial Diseases | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C1704436 | Peripheral Arterial Diseases | LGALS3 | 3958 | galectin 3 | P17931 |
| C1704436 | Peripheral Arterial Diseases | LIPC | 3990 | lipase C, hepatic type | P11150 |
