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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0020456 | Hyperglycemia | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0024623 | Malignant neoplasm of stomach | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0030567 | Parkinson Disease | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0003873 | Rheumatoid Arthritis | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0699791 | Stomach Carcinoma | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0002395 | Alzheimer's Disease | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0033578 | Prostatic Neoplasms | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0020501 | Primary Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0022650 | Kidney Calculi | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0020500 | Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0392525 | Nephrolithiasis | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0376358 | Malignant neoplasm of prostate | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C3888018 | Congenital Hyperinsulinism | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0025521 | Inborn Errors of Metabolism | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C1854896 | Mucolipidosis III Gamma | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0085078 | Lysosomal Storage Diseases | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0036439 | Scoliosis, unspecified | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0038506 | Stuttering | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0026697 | Mucolipidoses | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0033788 | Pseudo-Hurler Polydystrophy | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
