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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 |
|---|---|---|---|---|---|
| C0282687 | Hemorrhagic Fever, Ebola | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C2239176 | Liver carcinoma | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C1708349 | Hereditary Diffuse Gastric Cancer | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0086543 | Cataract | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0476089 | Endometrial Carcinoma | DOLPP1 | 57171 | dolichyldiphosphatase 1 | Q86YN1 |
| C0007103 | Malignant neoplasm of endometrium | DOLPP1 | 57171 | dolichyldiphosphatase 1 | Q86YN1 |
| C4317224 | Congenital disorder of glycosylation type 1q | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0023787 | Lipodystrophy | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1835849 | Congenital Disorder Of Glycosylation, Type Im | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0020757 | Ichthyoses | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0000768 | Congenital Abnormality | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0007193 | Cardiomyopathy, Dilated | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0009714 | Hepatic Fibrosis, Congenital | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0241005 | Creatine phosphokinase serum increased | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C4551675 | Keratoderma, Palmoplantar | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0340427 | Familial dilated cardiomyopathy | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0018784 | Sensorineural Hearing Loss (disorder) | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0524851 | Neurodegenerative Disorders | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0008312 | Primary biliary cirrhosis | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0349464 | Wernicke-Korsakoff Syndrome | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0030421 | Paraganglioma | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0002395 | Alzheimer's Disease | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0376358 | Malignant neoplasm of prostate | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0750901 | Alzheimer Disease, Early Onset | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
