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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 |
|---|---|---|---|---|---|
| C0006309 | Brucellosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0409959 | Osteoarthritis, Knee | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0034103 | Pulpitis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0343723 | Neonatal chlamydial conjunctivitis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0026850 | Muscular Dystrophy | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0241005 | Creatine phosphokinase serum increased | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0018916 | Hemangioma | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0398625 | Protein C Deficiency | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0013274 | Patent ductus arteriosus | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C4317224 | Congenital disorder of glycosylation type 1q | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0025958 | Microcephaly | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0699743 | Congenital muscular dystrophy (disorder) | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0272375 | Antithrombin III Deficiency | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0039446 | Telangiectasis | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0014544 | Epilepsy | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C3554385 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0241005 | Creatine phosphokinase serum increased | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0026850 | Muscular Dystrophy | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0017606 | Primary angle-closure glaucoma | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0206368 | Exfoliation Syndrome | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0020224 | Polyhydramnios | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0272375 | Antithrombin III Deficiency | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0036439 | Scoliosis, unspecified | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
