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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 |
|---|---|---|---|---|---|
| C3887949 | Apparent mineralocorticoid excess | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C3887949 | Apparent mineralocorticoid excess | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C3887949 | Apparent mineralocorticoid excess | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3887949 | Apparent mineralocorticoid excess | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C1720779 | Apolipoprotein C-II Deficiency (disorder) | LPL | 4023 | lipoprotein lipase | P06858 |
| C1332316 | Apocrine breast carcinoma | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0334345 | Apocrine adenoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0002874 | Aplastic Anemia | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0002874 | Aplastic Anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0002874 | Aplastic Anemia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0002874 | Aplastic Anemia | LGALS9 | 3965 | galectin 9 | O00182 |
| C0002874 | Aplastic Anemia | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0002874 | Aplastic Anemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0002874 | Aplastic Anemia | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0002874 | Aplastic Anemia | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0002874 | Aplastic Anemia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0002874 | Aplastic Anemia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0002874 | Aplastic Anemia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0002874 | Aplastic Anemia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0002874 | Aplastic Anemia | CD48 | 962 | CD48 molecule | P09326 |
| C0002874 | Aplastic Anemia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0002874 | Aplastic Anemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0002874 | Aplastic Anemia | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0002874 | Aplastic Anemia | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0002874 | Aplastic Anemia | DGKZ | 8525 | diacylglycerol kinase zeta | Q13574 |
