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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C1269683 | Major Depressive Disorder | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0023066 | Laryngospasm | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0002736 | Amyotrophic Lateral Sclerosis | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0025202 | melanoma | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0029410 | Osteoarthritis of hip | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0151779 | Cutaneous Melanoma | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0003467 | Anxiety | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0011581 | Depressive disorder | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0036341 | Schizophrenia | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0041696 | Unipolar Depression | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0409959 | Osteoarthritis, Knee | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0005586 | Bipolar Disorder | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0029408 | Degenerative polyarthritis | GLT8D1 | 55830 | glycosyltransferase 8 domain containing 1 | Q68CQ7 |
| C0029408 | Degenerative polyarthritis | PLA2G4F | 255189 | phospholipase A2 group IVF | Q68DD2 |
| C0006826 | Malignant Neoplasms | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
