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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 ▼ |
|---|---|---|---|---|---|
| C0042798 | Low Vision | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0870082 | Hyperkeratosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0038379 | Strabismus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C4317224 | Congenital disorder of glycosylation type 1q | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0029124 | Optic Atrophy | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0028738 | Nystagmus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0017661 | IGA Glomerulonephritis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0025958 | Microcephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0027651 | Neoplasms | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0235946 | Cerebral atrophy | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020676 | Hypothyroidism | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020758 | Congenital ichthyosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0011615 | Dermatitis, Atopic | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020620 | Hypohidrosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0243026 | Sepsis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020757 | Ichthyoses | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C1855789 | Self-Healing Collodion Baby | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0079153 | Hyperkeratosis, Epidermolytic | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0079583 | Ichthyosiform Erythroderma, Congenital | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0033578 | Prostatic Neoplasms | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C1140680 | Malignant neoplasm of ovary | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020758 | Congenital ichthyosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
