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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 |
|---|---|---|---|---|---|
| C0028754 | Obesity | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0456909 | Blindness | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0854723 | Retinal Dystrophies | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0085636 | Photophobia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0520947 | Clumsiness - motor delay | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0029089 | Ophthalmoplegia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0028738 | Nystagmus | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0018784 | Sensorineural Hearing Loss (disorder) | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0205700 | Asymmetric Septal Hypertrophy | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0233794 | Memory impairment | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020505 | Hyperphagia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0086795 | Pfaundler-Hurler Syndrome | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0022578 | Keratoconus | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020459 | Hyperinsulinism | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0038273 | Stereotypic Movement Disorder | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0028077 | Nyctalopia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020619 | Hypogonadism | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0521694 | Atrophic retina | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0086648 | MPS III B | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | GPAT4 | 137964 | glycerol-3-phosphate acyltransferase 4 | Q86UL3 |
| C1833511 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0020295 | Hydronephrosis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0524620 | Metabolic Syndrome X | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1306459 | Primary malignant neoplasm | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
