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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 |
|---|---|---|---|---|---|
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C3468041 | FANCONI ANEMIA, COMPLEMENTATION GROUP C | GCK | 2645 | glucokinase | P35557 |
| C3463992 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3463897 | HYDATIDIFORM MOLE, RECURRENT, 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C3463897 | HYDATIDIFORM MOLE, RECURRENT, 1 | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C3463897 | HYDATIDIFORM MOLE, RECURRENT, 1 | LGALS1 | 3956 | galectin 1 | P09382 |
| C3463897 | HYDATIDIFORM MOLE, RECURRENT, 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| 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 |
