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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 |
|---|---|---|---|---|---|
| C0740394 | Hyperuricemia | KHK | 3795 | ketohexokinase | P50053 |
| C0740394 | Hyperuricemia | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0740394 | Hyperuricemia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0740394 | Hyperuricemia | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0740451 | Granulomatous disorder | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0740457 | Malignant neoplasm of kidney | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0740457 | Malignant neoplasm of kidney | ST6GALNAC6 | 30815 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 | Q969X2 |
| C0740457 | Malignant neoplasm of kidney | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0740457 | Malignant neoplasm of kidney | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0740457 | Malignant neoplasm of kidney | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0740457 | Malignant neoplasm of kidney | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0740457 | Malignant neoplasm of kidney | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0740457 | Malignant neoplasm of kidney | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0740457 | Malignant neoplasm of kidney | ACO2 | 50 | aconitase 2 | Q99798 |
| C0740457 | Malignant neoplasm of kidney | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0740457 | Malignant neoplasm of kidney | UGT2B7 | 7364 | UDP glucuronosyltransferase family 2 member B7 | P16662 |
| C0740457 | Malignant neoplasm of kidney | KL | 9365 | klotho | Q9UEF7 |
| C0740457 | Malignant neoplasm of kidney | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0740457 | Malignant neoplasm of kidney | VCAN | 1462 | versican | P13611 |
| C0740457 | Malignant neoplasm of kidney | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0740457 | Malignant neoplasm of kidney | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0740457 | Malignant neoplasm of kidney | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0740457 | Malignant neoplasm of kidney | FH | 2271 | fumarate hydratase | P07954 |
| C0740457 | Malignant neoplasm of kidney | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0740457 | Malignant neoplasm of kidney | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
