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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 ▼ |
|---|---|---|---|---|---|
| C0043194 | Wiskott-Aldrich Syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0010674 | Cystic Fibrosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0268255 | Farber Lipogranulomatosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0376358 | Malignant neoplasm of prostate | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0006826 | Malignant Neoplasms | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0751785 | Unverricht-Lundborg Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0023465 | Acute monocytic leukemia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0023467 | Leukemia, Myelocytic, Acute | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1834569 | Jankovic Rivera syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0034069 | Pulmonary Fibrosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0549473 | Thyroid carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0600139 | Prostate carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0027066 | Myoclonus | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1621958 | Glioblastoma Multiforme | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0003864 | Arthritis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0004238 | Atrial Fibrillation | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0520947 | Clumsiness - motor delay | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| 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 |
