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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 |
|---|---|---|---|---|---|
| C3463824 | MYELODYSPLASTIC SYNDROME | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C3463824 | MYELODYSPLASTIC SYNDROME | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3463824 | MYELODYSPLASTIC SYNDROME | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| 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 |
| C3463992 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3468041 | FANCONI ANEMIA, COMPLEMENTATION GROUP C | GCK | 2645 | glucokinase | P35557 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | CALR | 811 | calreticulin | P27797 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
