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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 |
|---|---|---|---|---|---|
| C0026707 | Mucopolysaccharidosis IV | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0013336 | Dwarfism | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0035334 | Retinitis Pigmentosa | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0476254 | Dyslexia | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0003507 | Aortic Valve Stenosis | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0086795 | Pfaundler-Hurler Syndrome | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0376358 | Malignant neoplasm of prostate | NAGK | 55577 | N-acetylglucosamine kinase | Q9UJ70 |
| C0033578 | Prostatic Neoplasms | NAGK | 55577 | N-acetylglucosamine kinase | Q9UJ70 |
| C0004352 | Autistic Disorder | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0086648 | MPS III B | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0699791 | Stomach Carcinoma | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1565489 | Renal Insufficiency | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0026706 | Mucopolysaccharidosis III | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0004153 | Atherosclerosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0026703 | Mucopolysaccharidoses | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0085078 | Lysosomal Storage Diseases | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0524851 | Neurodegenerative Disorders | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0282160 | Aplasia Cutis Congenita | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1561643 | Chronic Kidney Diseases | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0268731 | Renal glomerular disease | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C4225306 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0020295 | Hydronephrosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0205700 | Asymmetric Septal Hypertrophy | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0700095 | Central neuroblastoma | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
