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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 ▲ |
|---|---|---|---|---|---|
| C0011570 | Mental Depression | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0006826 | Malignant Neoplasms | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0398623 | Thrombophilia | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0011581 | Depressive disorder | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C1306459 | Primary malignant neoplasm | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0022336 | Creutzfeldt-Jakob disease | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C0009402 | Colorectal Carcinoma | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C1306459 | Primary malignant neoplasm | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C0027651 | Neoplasms | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C0006826 | Malignant Neoplasms | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C0006826 | Malignant Neoplasms | MTMR6 | 9107 | myotubularin related protein 6 | Q9Y217 |
| C1853926 | NONAKA MYOPATHY | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0036572 | Seizures | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1096902 | Infantile Sialic Acid Storage Disease | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0751336 | Distal Muscular Dystrophies | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0026848 | Myopathy | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0027651 | Neoplasms | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0276289 | Zika Virus Infection | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0342853 | Sialuria | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0015469 | Facial paralysis | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0346647 | Malignant neoplasm of pancreas | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0233794 | Memory impairment | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
