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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 |
|---|---|---|---|---|---|
| C0221244 | Seborrheic dermatitis of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0221276 | Relative erythrocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0221356 | Brachycephaly | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0221356 | Brachycephaly | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0221356 | Brachycephaly | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0221356 | Brachycephaly | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0221356 | Brachycephaly | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0221356 | Brachycephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0221356 | Brachycephaly | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0221356 | Brachycephaly | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0221356 | Brachycephaly | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0221356 | Brachycephaly | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0221356 | Brachycephaly | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0221356 | Brachycephaly | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0221356 | Brachycephaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0221356 | Brachycephaly | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0221356 | Brachycephaly | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0221356 | Brachycephaly | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0221356 | Brachycephaly | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0221356 | Brachycephaly | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0221356 | Brachycephaly | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0221356 | Brachycephaly | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0221356 | Brachycephaly | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0221356 | Brachycephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0221356 | Brachycephaly | FKTN | 2218 | fukutin | O75072 |
