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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 |
|---|---|---|---|---|---|
| C0221043 | Liddle Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0221043 | Liddle Syndrome | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0221055 | Paramyotonia Congenita (disorder) | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0221056 | Adult type dermatomyositis | SRGN | 5552 | serglycin | P10124 |
| C0221056 | Adult type dermatomyositis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0221056 | Adult type dermatomyositis | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0221056 | Adult type dermatomyositis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0221056 | Adult type dermatomyositis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0221056 | Adult type dermatomyositis | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0221056 | Adult type dermatomyositis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0221056 | Adult type dermatomyositis | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0221056 | Adult type dermatomyositis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0221056 | Adult type dermatomyositis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0221056 | Adult type dermatomyositis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0221056 | Adult type dermatomyositis | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0221056 | Adult type dermatomyositis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0221056 | Adult type dermatomyositis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0221056 | Adult type dermatomyositis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0221060 | Mobius Syndrome | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0221060 | Mobius Syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0221069 | Anterior Spinal Artery Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0221074 | Depression, Postpartum | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0221074 | Depression, Postpartum | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0221074 | Depression, Postpartum | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0221074 | Depression, Postpartum | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
