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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 |
|---|---|---|---|---|---|
| C0037268 | Skin Abnormalities | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0037268 | Skin Abnormalities | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0037268 | Skin Abnormalities | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0037268 | Skin Abnormalities | LSS | 4047 | lanosterol synthase | P48449 |
| C0037268 | Skin Abnormalities | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0037231 | Sjogren-Larsson Syndrome | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0037231 | Sjogren-Larsson Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0037231 | Sjogren-Larsson Syndrome | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0037231 | Sjogren-Larsson Syndrome | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C0037231 | Sjogren-Larsson Syndrome | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C1527336 | Sjogren's Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1527336 | Sjogren's Syndrome | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C1527336 | Sjogren's Syndrome | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C1527336 | Sjogren's Syndrome | CHIA | 27159 | chitinase acidic | Q9BZP6 |
| C1527336 | Sjogren's Syndrome | LYZ | 4069 | lysozyme | P61626 |
| C1527336 | Sjogren's Syndrome | CALR | 811 | calreticulin | P27797 |
| C1527336 | Sjogren's Syndrome | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C1527336 | Sjogren's Syndrome | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1527336 | Sjogren's Syndrome | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C1527336 | Sjogren's Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1527336 | Sjogren's Syndrome | STS | 412 | steroid sulfatase | P08842 |
| C1527336 | Sjogren's Syndrome | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1527336 | Sjogren's Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1527336 | Sjogren's Syndrome | SELE | 6401 | selectin E | P16581 |
| C1527336 | Sjogren's Syndrome | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
