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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 |
|---|---|---|---|---|---|
| C0024121 | Lung Neoplasms | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0009404 | Colorectal Neoplasms | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0476089 | Endometrial Carcinoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0005411 | Biliary Atresia | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0242994 | Hantavirus Infections | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0272286 | Thrombocytopenia due to platelet alloimmunization | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0678222 | Breast Carcinoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0699885 | Carcinoma of bladder | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0007131 | Non-Small Cell Lung Carcinoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0007097 | Carcinoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0220981 | Metabolic acidosis | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268583 | Methylmalonic acidemia | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268468 | Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0025517 | Metabolic Diseases | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0017168 | Gastroesophageal reflux disease | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0032285 | Pneumonia | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0278510 | Childhood Medulloblastoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0268583 | Methylmalonic acidemia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0007138 | Carcinoma, Transitional Cell | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1621958 | Glioblastoma Multiforme | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0262401 | Carcinoma of ampulla of Vater | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0018801 | Heart failure | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0028945 | oligodendroglioma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0342701 | Transcobalamin II deficiency | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
