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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 |
|---|---|---|---|---|---|
| C0043208 | Wolman Disease | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0043208 | Wolman Disease | CAT | 847 | catalase | P04040 |
| C0043208 | Wolman Disease | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0043208 | Wolman Disease | LIPF | 8513 | lipase F, gastric type | P07098 |
| C1279481 | X-Linked Combined Immunodeficiency Diseases | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C1279481 | X-Linked Combined Immunodeficiency Diseases | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1279481 | X-Linked Combined Immunodeficiency Diseases | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1148551 | X-Linked Dyskeratosis Congenita | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C1848199 | X-Linked Lissencephaly | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1848199 | X-Linked Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0549463 | X-Linked Lymphoproliferative Disorder | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0549463 | X-Linked Lymphoproliferative Disorder | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0549463 | X-Linked Lymphoproliferative Disorder | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0549463 | X-Linked Lymphoproliferative Disorder | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0549463 | X-Linked Lymphoproliferative Disorder | CD1D | 912 | CD1d molecule | P15813 |
| C0342482 | X-linked Adrenal Hypoplasia | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0342482 | X-linked Adrenal Hypoplasia | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0342482 | X-linked Adrenal Hypoplasia | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C0342482 | X-linked Adrenal Hypoplasia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0342482 | X-linked Adrenal Hypoplasia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0342482 | X-linked Adrenal Hypoplasia | GK | 2710 | glycerol kinase | P32189 |
| C0342482 | X-linked Adrenal Hypoplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0342482 | X-linked Adrenal Hypoplasia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0342482 | X-linked Adrenal Hypoplasia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0221026 | X-linked agammaglobulinemia | GLA | 2717 | galactosidase alpha | P06280 |
