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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 |
|---|---|---|---|---|---|
| C1855472 | Acute lymphoblastic leukemia with lymphomatous features | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0595989 | Carcinoma of larynx | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0010054 | Coronary Arteriosclerosis | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0079773 | Lymphoma, T-Cell, Cutaneous | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0004763 | Barrett Esophagus | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0334513 | Sarcomatoid Mesothelioma | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0079588 | Ichthyosis, X-Linked | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0036341 | Schizophrenia | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0029124 | Optic Atrophy | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0013384 | Dyskinetic syndrome | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0009402 | Colorectal Carcinoma | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0752202 | Childhood Onset Dystonias | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0008489 | Chorea | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0007789 | Cerebral Palsy | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0027066 | Myoclonus | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0028738 | Nystagmus | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C3665347 | Visual Impairment | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0019269 | Hermaphroditism | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0346647 | Malignant neoplasm of pancreas | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0023418 | leukemia | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0678222 | Breast Carcinoma | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0033375 | Prolactinoma | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0006142 | Malignant neoplasm of breast | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C1318544 | M5b Acute differentiated monocytic leukemia | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C2239176 | Liver carcinoma | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
