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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 |
|---|---|---|---|---|---|
| C1264041 | von Willebrand Disease, Type 3 | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C1264041 | von Willebrand Disease, Type 3 | SELP | 6403 | selectin P | P16109 |
| C1264041 | von Willebrand Disease, Type 3 | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C1282975 | von Willebrand Disease, Type 2N | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1282975 | von Willebrand Disease, Type 2N | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1282975 | von Willebrand Disease, Type 2N | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C1264039 | von Willebrand Disease, Type 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1264039 | von Willebrand Disease, Type 1 | HPSE | 10855 | heparanase | Q9Y251 |
| C1264039 | von Willebrand Disease, Type 1 | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0042974 | von Willebrand Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0042974 | von Willebrand Disease | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0042974 | von Willebrand Disease | CANX | 821 | calnexin | P27824 |
| C0042974 | von Willebrand Disease | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0039101 | synovial sarcoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0039101 | synovial sarcoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0039101 | synovial sarcoma | ENO2 | 2026 | enolase 2 | P09104 |
| C0039101 | synovial sarcoma | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0039101 | synovial sarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0039101 | synovial sarcoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0039101 | synovial sarcoma | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0039101 | synovial sarcoma | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0039101 | synovial sarcoma | CD38 | 952 | CD38 molecule | P28907 |
| C0039101 | synovial sarcoma | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0039101 | synovial sarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0039101 | synovial sarcoma | SELE | 6401 | selectin E | P16581 |
