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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 ▲ |
|---|---|---|---|---|---|
| C0007193 | Cardiomyopathy, Dilated | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0005745 | Blepharoptosis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0524620 | Metabolic Syndrome X | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C4551952 | Myopathy, Centronuclear, 1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0410207 | Tubular Aggregate Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0699790 | Colon Carcinoma | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0027651 | Neoplasms | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0015934 | Fetal Growth Retardation | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0007102 | Malignant tumor of colon | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0020255 | Hydrocephalus | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0004245 | Atrioventricular Block | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0006826 | Malignant Neoplasms | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0013274 | Patent ductus arteriosus | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C2711227 | Steatohepatitis | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0004509 | Azoospermia | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0027651 | Neoplasms | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0025202 | melanoma | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0010674 | Cystic Fibrosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0268255 | Farber Lipogranulomatosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0376358 | Malignant neoplasm of prostate | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0006826 | Malignant Neoplasms | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0751785 | Unverricht-Lundborg Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0023465 | Acute monocytic leukemia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
