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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 |
|---|---|---|---|---|---|
| C0752282 | Congenital Structural Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0018920 | Hemangioma, Cavernous | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C4551952 | Myopathy, Centronuclear, 1 | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0878544 | Cardiomyopathies | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C4721610 | Carcinoma, Ovarian Epithelial | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0546264 | Congenital Fiber Type Disproportion | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0520947 | Clumsiness - motor delay | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0015469 | Facial paralysis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0345904 | Malignant neoplasm of liver | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410203 | X-linked centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0003850 | Arteriosclerosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0003873 | Rheumatoid Arthritis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0034050 | Pulmonary Alveolar Proteinosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPD | 6441 | surfactant protein D | P35247 |
| C0035222 | Respiratory Distress Syndrome, Adult | SFTPD | 6441 | surfactant protein D | P35247 |
| C0035204 | Respiration Disorders | SFTPD | 6441 | surfactant protein D | P35247 |
| C0010674 | Cystic Fibrosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0007137 | Squamous cell carcinoma | SFTPD | 6441 | surfactant protein D | P35247 |
| C0035220 | Respiratory Distress Syndrome, Newborn | SFTPD | 6441 | surfactant protein D | P35247 |
| C0006826 | Malignant Neoplasms | SFTPD | 6441 | surfactant protein D | P35247 |
| C0036421 | Systemic Scleroderma | SFTPD | 6441 | surfactant protein D | P35247 |
| C0024115 | Lung diseases | SFTPD | 6441 | surfactant protein D | P35247 |
| C0011849 | Diabetes Mellitus | SFTPD | 6441 | surfactant protein D | P35247 |
