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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 |
|---|---|---|---|---|---|
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ANXA7 | 310 | annexin A7 | P20073 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | LPL | 4023 | lipoprotein lipase | P06858 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CAT | 847 | catalase | P04040 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CD33 | 945 | CD33 molecule | P20138 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CD48 | 962 | CD48 molecule | P09326 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ME1 | 4199 | malic enzyme 1 | P48163 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| 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 |
