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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 |
|---|---|---|---|---|---|
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | CDH13 | 1012 | cadherin 13 | P55290 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1274233 | T-lymphocyte immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1274233 | T-lymphocyte immunodeficiency | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C1744558 | T-lymphocyte deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1744558 | T-lymphocyte deficiency | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1744558 | T-lymphocyte deficiency | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0153252 | Systemic candidiasis | PSAP | 5660 | prosaposin | P07602 |
| C0153252 | Systemic candidiasis | ENO1 | 2023 | enolase 1 | P06733 |
| C0153252 | Systemic candidiasis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0153252 | Systemic candidiasis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0153252 | Systemic candidiasis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0153252 | Systemic candidiasis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0153252 | Systemic candidiasis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0153252 | Systemic candidiasis | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C0153252 | Systemic candidiasis | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
