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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 |
|---|---|---|---|---|---|
| C3665347 | Visual Impairment | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0278878 | Adult Glioblastoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0027819 | Neuroblastoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0004352 | Autistic Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0026850 | Muscular Dystrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0035334 | Retinitis Pigmentosa | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0700095 | Central neuroblastoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0241005 | Creatine phosphokinase serum increased | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3463992 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1263846 | Attention deficit hyperactivity disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0029124 | Optic Atrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| 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 |
| C0024117 | Chronic Obstructive Airway Disease | SFTPD | 6441 | surfactant protein D | P35247 |
