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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 |
|---|---|---|---|---|---|
| C0023794 | Lipoidosis | GALC | 2581 | galactosylceramidase | P54803 |
| C0023794 | Lipoidosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0023794 | Lipoidosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0023794 | Lipoidosis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0023794 | Lipoidosis | LPL | 4023 | lipoprotein lipase | P06858 |
| C0023794 | Lipoidosis | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0023794 | Lipoidosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0023794 | Lipoidosis | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0023794 | Lipoidosis | GDPD3 | 79153 | glycerophosphodiester phosphodiesterase domain containing 3 | Q7L5L3 |
| C0023794 | Lipoidosis | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0023794 | Lipoidosis | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0023794 | Lipoidosis | LSS | 4047 | lanosterol synthase | P48449 |
| C0023787 | Lipodystrophy | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0023787 | Lipodystrophy | FKTN | 2218 | fukutin | O75072 |
| C0023787 | Lipodystrophy | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0023787 | Lipodystrophy | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0023787 | Lipodystrophy | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0023787 | Lipodystrophy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0023787 | Lipodystrophy | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0023787 | Lipodystrophy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0023787 | Lipodystrophy | PARP2 | 10038 | poly(ADP-ribose) polymerase 2 | Q9UGN5 |
| C0023787 | Lipodystrophy | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0023787 | Lipodystrophy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0023787 | Lipodystrophy | CD38 | 952 | CD38 molecule | P28907 |
| C0023787 | Lipodystrophy | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
