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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C1969621 | DEAFNESS, AUTOSOMAL RECESSIVE 63 | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C1384666 | hearing impairment | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C0006142 | Malignant neoplasm of breast | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C0018784 | Sensorineural Hearing Loss (disorder) | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C0678222 | Breast Carcinoma | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C0452138 | Sensorineural hearing loss, bilateral | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C0023903 | Liver neoplasms | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C2239176 | Liver carcinoma | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0024620 | Primary Malignant Liver Neoplasm | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0345904 | Malignant neoplasm of liver | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0023520 | Leukodystrophy | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0854795 | Resectable Malignant Liver Neoplasm | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0017636 | Glioblastoma | NEU4 | 129807 | neuraminidase 4 | Q8WWR8 |
| C0027819 | Neuroblastoma | NEU4 | 129807 | neuraminidase 4 | Q8WWR8 |
| C0027651 | Neoplasms | NEU4 | 129807 | neuraminidase 4 | Q8WWR8 |
| C0006826 | Malignant Neoplasms | NEU4 | 129807 | neuraminidase 4 | Q8WWR8 |
| C1306459 | Primary malignant neoplasm | NEU4 | 129807 | neuraminidase 4 | Q8WWR8 |
| C0700095 | Central neuroblastoma | NEU4 | 129807 | neuraminidase 4 | Q8WWR8 |
| C1621958 | Glioblastoma Multiforme | NEU4 | 129807 | neuraminidase 4 | Q8WWR8 |
