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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 |
|---|---|---|---|---|---|
| C0266544 | Microcornea | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0026010 | Microphthalmos | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0678222 | Breast Carcinoma | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010417 | Cryptorchidism | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0029124 | Optic Atrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0035305 | Retinal Detachment | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0025958 | Microcephaly | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010964 | Dandy-Walker Syndrome | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0241005 | Creatine phosphokinase serum increased | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0678222 | Breast Carcinoma | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0023434 | Chronic Lymphocytic Leukemia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0011265 | Presenile dementia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0023418 | leukemia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0011570 | Mental Depression | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0005586 | Bipolar Disorder | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0006142 | Malignant neoplasm of breast | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0002395 | Alzheimer's Disease | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0266362 | Ambiguous Genitalia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0001973 | Alcoholic Intoxication, Chronic | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0497327 | Dementia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0042769 | Virus Diseases | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0221060 | Mobius Syndrome | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0005587 | Depression, Bipolar | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
