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 ▲ |
---|---|---|---|---|---|
C4551630 | Ichthyosis Congenita I | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
C1266042 | Chromophobe Renal Cell Carcinoma | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
C0013592 | Ectropion | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
C3536797 | Ichthyosis Congenita II | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
C0221356 | Brachycephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
C1836669 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
C0282577 | Congenital Disorders of Glycosylation | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
C0020757 | Ichthyoses | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
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 |
C0024117 | Chronic Obstructive Airway Disease | CS | 1431 | citrate synthase | O75390 |
C0004114 | Astrocytoma | CS | 1431 | citrate synthase | O75390 |
C0018801 | Heart failure | CS | 1431 | citrate synthase | O75390 |
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Last updated: August 19, 2024