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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 |
|---|---|---|---|---|---|
| C1704436 | Peripheral Arterial Diseases | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C1704436 | Peripheral Arterial Diseases | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C1704436 | Peripheral Arterial Diseases | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1704436 | Peripheral Arterial Diseases | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C1704436 | Peripheral Arterial Diseases | ACOD1 | 730249 | aconitate decarboxylase 1 | A6NK06 |
| 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 |
| C1704429 | Hypoalphalipoproteinemia, Familial | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| 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 |
| 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 |
| C1704380 | Distal Renal Tubular Acidosis | CANX | 821 | calnexin | P27824 |
| C1704376 | Uterine Corpus Carcinosarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1704376 | Uterine Corpus Carcinosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1704376 | Uterine Corpus Carcinosarcoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1704374 | Carcinoma of Endocrine Gland | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1704374 | Carcinoma of Endocrine Gland | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1704374 | Carcinoma of Endocrine Gland | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1704356 | Enchondroma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
