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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 |
|---|---|---|---|---|---|
| C0701818 | Choledocholithiasis | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0701818 | Choledocholithiasis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0701818 | Choledocholithiasis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0702135 | Primary atypical pneumonia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0702166 | Acne | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0702166 | Acne | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0702166 | Acne | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0702166 | Acne | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0702166 | Acne | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0702166 | Acne | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0702166 | Acne | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0702166 | Acne | LYZ | 4069 | lysozyme | P61626 |
| C0702166 | Acne | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0702166 | Acne | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0702166 | Acne | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0702166 | Acne | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0702166 | Acne | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0702166 | Acne | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0702166 | Acne | LPL | 4023 | lipoprotein lipase | P06858 |
| C0702166 | Acne | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0702166 | Acne | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0702166 | Acne | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0702166 | Acne | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0702166 | Acne | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0729346 | Osteochondritis juvenilis | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
