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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 ▼ |
|---|---|---|---|---|---|
| C0037315 | Sleep Apnea Syndromes | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0008350 | Cholelithiasis | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0007134 | Renal Cell Carcinoma | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0036439 | Scoliosis, unspecified | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0029401 | Osteitis Deformans | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0338451 | Frontotemporal dementia | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0006826 | Malignant Neoplasms | MTMR6 | 9107 | myotubularin related protein 6 | Q9Y217 |
| 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 |
| C0006142 | Malignant neoplasm of breast | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0011847 | Diabetes | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0038436 | Post-Traumatic Stress Disorder | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0009402 | Colorectal Carcinoma | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0278996 | Malignant Head and Neck Neoplasm | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C2239176 | Liver carcinoma | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0400966 | Non-alcoholic Fatty Liver Disease | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| 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 |
