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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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1306459 | Primary malignant neoplasm | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0278510 | Childhood Medulloblastoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0036439 | Scoliosis, unspecified | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0040136 | Thyroid Neoplasm | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0085078 | Lysosomal Storage Diseases | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0497327 | Dementia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014550 | Myoclonic Epilepsy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0751177 | Cancer of Head | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0042769 | Virus Diseases | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0017601 | Glaucoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3714756 | Intellectual Disability | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0028738 | Nystagmus | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0027651 | Neoplasms | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0009319 | Colitis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014544 | Epilepsy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0751778 | Myoclonic Epilepsies, Progressive | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0026847 | Spinal Muscular Atrophy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0007102 | Malignant tumor of colon | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0010038 | Corneal Opacity | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014548 | Epilepsy, Generalized | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0025202 | melanoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0033806 | Pseudohypoparathyroidism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0020626 | Hypoparathyroidism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
