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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 ▼ |
|---|---|---|---|---|---|
| C0019270 | Hernia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0086543 | Cataract | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| 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 |
| C0033860 | Psoriasis | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
| C0007102 | Malignant tumor of colon | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
| C0684249 | Carcinoma of lung | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
| C0699790 | Colon Carcinoma | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
