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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 |
|---|---|---|---|---|---|
| C3495427 | Fanconi-Bickel Syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3495427 | Fanconi-Bickel Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C3495427 | Fanconi-Bickel Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0015624 | Fanconi Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0015624 | Fanconi Syndrome | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0015624 | Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0015624 | Fanconi Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0015624 | Fanconi Syndrome | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0015624 | Fanconi Syndrome | VNN2 | 8875 | vanin 2 | O95498 |
| C0015624 | Fanconi Syndrome | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0015624 | Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015624 | Fanconi Syndrome | VNN1 | 8876 | vanin 1 | O95497 |
| C0015624 | Fanconi Syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0015625 | Fanconi Anemia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0015625 | Fanconi Anemia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0015625 | Fanconi Anemia | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0015625 | Fanconi Anemia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0015625 | Fanconi Anemia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0015625 | Fanconi Anemia | CD38 | 952 | CD38 molecule | P28907 |
| C0015625 | Fanconi Anemia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0015625 | Fanconi Anemia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0015625 | Fanconi Anemia | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C0015625 | Fanconi Anemia | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0015625 | Fanconi Anemia | ENO1 | 2023 | enolase 1 | P06733 |
| C0015625 | Fanconi Anemia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
