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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol ▼ | Gene ID | Gene Name | UniProt ID |
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C0028738 | Nystagmus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0020302 | Hydrophthalmos | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0266544 | Microcornea | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0037822 | Speech Disorders | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0085636 | Photophobia | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C2875316 | Myotubular (centronuclear) myopathy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C1531647 | Cerebral ventriculomegaly | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0338502 | Hypoplasia of the optic nerve | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0017601 | Glaucoma | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0035304 | Retinal Degeneration | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0020459 | Hyperinsulinism | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C2242776 | Plexiform leiomyoma | POGLUT3 | 143888 | protein O-glucosyltransferase 3 | Q7Z4H8 |
C0007134 | Renal Cell Carcinoma | POGLUT3 | 143888 | protein O-glucosyltransferase 3 | Q7Z4H8 |
C0005586 | Bipolar Disorder | POGLUT2 | 79070 | protein O-glucosyltransferase 2 | Q6UW63 |
C0023418 | leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C3714534 | dowling-degos disease | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C0023467 | Leukemia, Myelocytic, Acute | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C3463824 | MYELODYSPLASTIC SYNDROME | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C1332977 | Childhood Leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C0279592 | Adult T Acute Lymphoblastic Leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C0007131 | Non-Small Cell Lung Carcinoma | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
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 |
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Last updated: August 19, 2024