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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 |
|---|---|---|---|---|---|
| C1443892 | Chronic Q Fever | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1443892 | Chronic Q Fever | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1443892 | Chronic Q Fever | LSS | 4047 | lanosterol synthase | P48449 |
| C0520463 | Chronic active hepatitis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0520463 | Chronic active hepatitis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0520463 | Chronic active hepatitis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0520463 | Chronic active hepatitis | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0520463 | Chronic active hepatitis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0520463 | Chronic active hepatitis | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0520463 | Chronic active hepatitis | KLRC1 | 3821 | killer cell lectin like receptor C1 | P26715 |
| C0520463 | Chronic active hepatitis | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0520463 | Chronic active hepatitis | CAT | 847 | catalase | P04040 |
| C0520463 | Chronic active hepatitis | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0520463 | Chronic active hepatitis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0520463 | Chronic active hepatitis | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0520463 | Chronic active hepatitis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0520463 | Chronic active hepatitis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0520463 | Chronic active hepatitis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0520463 | Chronic active hepatitis | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0520463 | Chronic active hepatitis | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0520463 | Chronic active hepatitis | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0396023 | Chronic adenoiditis | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0267918 | Chronic cholangitis | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0346421 | Chronic eosinophilic leukemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0346421 | Chronic eosinophilic leukemia | CEL | 1056 | carboxyl ester lipase | P19835 |
