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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 |
|---|---|---|---|---|---|
| C0027877 | Neuronal Ceroid-Lipofuscinoses | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0524851 | Neurodegenerative Disorders | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C3714756 | Intellectual Disability | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0268281 | Infantile neuronal ceroid lipofuscinosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0700095 | Central neuroblastoma | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0006826 | Malignant Neoplasms | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0027651 | Neoplasms | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0017636 | Glioblastoma | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0022340 | Late-Infantile Neuronal Ceroid Lipfuscinosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0018213 | Graves Disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0376358 | Malignant neoplasm of prostate | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0456909 | Blindness | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0600139 | Prostate carcinoma | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0085584 | Encephalopathies | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0026650 | Movement Disorders | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0085078 | Lysosomal Storage Diseases | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0027819 | Neuroblastoma | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0271093 | Stargardt's disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0036341 | Schizophrenia | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0036857 | Severe intellectual disability | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0006142 | Malignant neoplasm of breast | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0011581 | Depressive disorder | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0022797 | Adult Neuronal Ceroid Lipofuscinosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
