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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 |
|---|---|---|---|---|---|
| C0376358 | Malignant neoplasm of prostate | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0270853 | Juvenile Myoclonic Epilepsy | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0018802 | Congestive heart failure | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0002395 | Alzheimer's Disease | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0008370 | Cholestasis | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0011615 | Dermatitis, Atopic | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0036572 | Seizures | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0013595 | Eczema | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0001973 | Alcoholic Intoxication, Chronic | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0010346 | Crohn Disease | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0018784 | Sensorineural Hearing Loss (disorder) | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0086648 | MPS III B | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0038506 | Stuttering | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0476254 | Dyslexia | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0920296 | Developmental reading disorder | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0033788 | Pseudo-Hurler Polydystrophy | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0524851 | Neurodegenerative Disorders | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0026697 | Mucolipidoses | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0020725 | Type II Mucolipidosis | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0033788 | Pseudo-Hurler Polydystrophy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0878544 | Cardiomyopathies | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
