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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 |
|---|---|---|---|---|---|
| C3810313 | DOWLING-DEGOS DISEASE 4 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0006826 | Malignant Neoplasms | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C4552092 | Dowling-Degos disease 1 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0699790 | Colon Carcinoma | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C1306459 | Primary malignant neoplasm | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0406811 | Reticulate acropigmentation of Kitamura | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0026850 | Muscular Dystrophy | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0022595 | Keratosis Follicularis | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0007102 | Malignant tumor of colon | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0009402 | Colorectal Carcinoma | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0027651 | Neoplasms | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0008312 | Primary biliary cirrhosis | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0279583 | Childhood T Acute Lymphoblastic Leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0018939 | Hematological Disease | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0241005 | Creatine phosphokinase serum increased | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0005586 | Bipolar Disorder | POGLUT2 | 79070 | protein O-glucosyltransferase 2 | Q6UW63 |
| C2242776 | Plexiform leiomyoma | POGLUT3 | 143888 | protein O-glucosyltransferase 3 | Q7Z4H8 |
| C0007134 | Renal Cell Carcinoma | POGLUT3 | 143888 | protein O-glucosyltransferase 3 | Q7Z4H8 |
| C3150417 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0010417 | Cryptorchidism | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0035334 | Retinitis Pigmentosa | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
