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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 |
|---|---|---|---|---|---|
| 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 |
| C0036341 | Schizophrenia | PLA2G4B | 100137049 | phospholipase A2 group IVB | P0C869 |
| C1168401 | Squamous cell carcinoma of the head and neck | PLA2G4B | 100137049 | phospholipase A2 group IVB | P0C869 |
| C0011991 | Diarrhea | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0007131 | Non-Small Cell Lung Carcinoma | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0687720 | Central Diabetes Insipidus | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0002395 | Alzheimer's Disease | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C1306459 | Primary malignant neoplasm | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0152136 | Low Tension Glaucoma | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0006826 | Malignant Neoplasms | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0243026 | Sepsis | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C1562894 | Thiel-Behnke corneal dystrophy | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C2239176 | Liver carcinoma | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0085682 | Hypophosphatemia | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0019693 | HIV Infections | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0033860 | Psoriasis | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
