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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 |
|---|---|---|---|---|---|
| C0018099 | Gout | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0018099 | Gout | UMOD | 7369 | uromodulin | P07911 |
| C0018099 | Gout | CD14 | 929 | CD14 molecule | P08571 |
| C0018099 | Gout | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0018099 | Gout | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0018099 | Gout | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0018099 | Gout | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0018194 | Giant Cell Granuloma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0018203 | Chronic granulomatous disease | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0018203 | Chronic granulomatous disease | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0018203 | Chronic granulomatous disease | EFNA2 | 1943 | ephrin A2 | O43921 |
| C0018203 | Chronic granulomatous disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0018203 | Chronic granulomatous disease | CAT | 847 | catalase | P04040 |
| C0018206 | granulosa cell tumor | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0018206 | granulosa cell tumor | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0018206 | granulosa cell tumor | CDH13 | 1012 | cadherin 13 | P55290 |
| C0018206 | granulosa cell tumor | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0018206 | granulosa cell tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018206 | granulosa cell tumor | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0018213 | Graves Disease | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0018213 | Graves Disease | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0018213 | Graves Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0018213 | Graves Disease | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0018213 | Graves Disease | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0018213 | Graves Disease | ST3GAL1 | 6482 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | Q11201 |
