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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 |
|---|---|---|---|---|---|
| C0403719 | Uric acid urolithiasis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0403719 | Uric acid urolithiasis | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0005683 | Urinary Bladder Calculi (disorder) | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0005683 | Urinary Bladder Calculi (disorder) | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0005683 | Urinary Bladder Calculi (disorder) | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| 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 |
| C0042025 | Urinary Stress Incontinence | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0042025 | Urinary Stress Incontinence | ARSA | 410 | arylsulfatase A | P15289 |
| C0042025 | Urinary Stress Incontinence | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0042025 | Urinary Stress Incontinence | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0042025 | Urinary Stress Incontinence | DCN | 1634 | decorin | P07585 |
| C0042025 | Urinary Stress Incontinence | CAT | 847 | catalase | P04040 |
| C0042025 | Urinary Stress Incontinence | FMOD | 2331 | fibromodulin | Q06828 |
| C0178879 | Urinary tract obstruction | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0178879 | Urinary tract obstruction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0178879 | Urinary tract obstruction | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0178879 | Urinary tract obstruction | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0042075 | Urologic Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0042075 | Urologic Diseases | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0042076 | Urologic Neoplasms | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0042076 | Urologic Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0042109 | Urticaria | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
