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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 |
|---|---|---|---|---|---|
| C0035220 | Respiratory Distress Syndrome, Newborn | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0017605 | Angle Closure Glaucoma | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| 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 |
| C0006826 | Malignant Neoplasms | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0019163 | Hepatitis B | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0349639 | Juvenile Myelomonocytic Leukemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0036202 | Sarcoidosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1306459 | Primary malignant neoplasm | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0004096 | Asthma | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0026769 | Multiple Sclerosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0520679 | Sleep Apnea, Obstructive | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0027022 | Myeloproliferative disease | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1306759 | Eosinophilic disorder | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
