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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 |
|---|---|---|---|---|---|
| C3281192 | INFANTILE CEREBELLAR-RETINAL DEGENERATION | ACO2 | 50 | aconitase 2 | Q99798 |
| C3281289 | TRICHOHEPATOENTERIC SYNDROME 2 | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3463824 | MYELODYSPLASTIC SYNDROME | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C3463824 | MYELODYSPLASTIC SYNDROME | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3463824 | MYELODYSPLASTIC SYNDROME | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C3463824 | MYELODYSPLASTIC SYNDROME | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C3463824 | MYELODYSPLASTIC SYNDROME | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C3463824 | MYELODYSPLASTIC SYNDROME | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C3463824 | MYELODYSPLASTIC SYNDROME | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C3463824 | MYELODYSPLASTIC SYNDROME | HPSE | 10855 | heparanase | Q9Y251 |
| C3463824 | MYELODYSPLASTIC SYNDROME | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3463824 | MYELODYSPLASTIC SYNDROME | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C3463824 | MYELODYSPLASTIC SYNDROME | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C3463824 | MYELODYSPLASTIC SYNDROME | GYS1 | 2997 | glycogen synthase 1 | P13807 |
| C3463824 | MYELODYSPLASTIC SYNDROME | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C3463824 | MYELODYSPLASTIC SYNDROME | LGALS9 | 3965 | galectin 9 | O00182 |
| C3463824 | MYELODYSPLASTIC SYNDROME | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C3463824 | MYELODYSPLASTIC SYNDROME | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C3463824 | MYELODYSPLASTIC SYNDROME | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C3463824 | MYELODYSPLASTIC SYNDROME | CALR | 811 | calreticulin | P27797 |
