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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 |
|---|---|---|---|---|---|
| C0037579 | Soft Tissue Neoplasms | OGA | 10724 | O-GlcNAcase | O60502 |
| C0037579 | Soft Tissue Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0037579 | Soft Tissue Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0037579 | Soft Tissue Neoplasms | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0037579 | Soft Tissue Neoplasms | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0282492 | Sneddon Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0206658 | Smooth Muscle Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0206658 | Smooth Muscle Tumor | FH | 2271 | fumarate hydratase | P07954 |
| C0206658 | Smooth Muscle Tumor | LGALS3 | 3958 | galectin 3 | P17931 |
| C0206658 | Smooth Muscle Tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0037369 | Smoking | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0037369 | Smoking | HS6ST3 | 266722 | heparan sulfate 6-O-sulfotransferase 3 | Q8IZP7 |
| C0037369 | Smoking | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0037369 | Smoking | GALNTL6 | 442117 | polypeptide N-acetylgalactosaminyltransferase like 6 | Q49A17 |
| C0037369 | Smoking | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
| C0037369 | Smoking | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0037369 | Smoking | ACAN | 176 | aggrecan | P16112 |
| C0037369 | Smoking | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0037369 | Smoking | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0037369 | Smoking | NTM | 50863 | neurotrimin | Q9P121 |
| C0037369 | Smoking | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0037369 | Smoking | CACNA2D3 | 55799 | calcium voltage-gated channel auxiliary subunit alpha2delta 3 | Q8IZS8 |
| C0037369 | Smoking | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0037369 | Smoking | CDH13 | 1012 | cadherin 13 | P55290 |
| C0037369 | Smoking | PLA2G4E | 123745 | phospholipase A2 group IVE | Q3MJ16 |
