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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 ▲ |
|---|---|---|---|---|---|
| C0018818 | Ventricular Septal Defects | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C1306459 | Primary malignant neoplasm | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0010278 | Craniosynostosis | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0027651 | Neoplasms | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0751406 | Post-Traumatic Osteoporosis | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0242383 | Age related macular degeneration | HS3ST4 | 9951 | heparan sulfate-glucosamine 3-sulfotransferase 4 | Q9Y661 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | HS3ST4 | 9951 | heparan sulfate-glucosamine 3-sulfotransferase 4 | Q9Y661 |
| C0236733 | Amphetamine-Related Disorders | HS3ST4 | 9951 | heparan sulfate-glucosamine 3-sulfotransferase 4 | Q9Y661 |
| C0269102 | Endometrioma | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0007131 | Non-Small Cell Lung Carcinoma | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0005695 | Bladder Neoplasm | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0006142 | Malignant neoplasm of breast | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0019163 | Hepatitis B | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0235974 | Pancreatic carcinoma | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0005684 | Malignant neoplasm of urinary bladder | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0014175 | Endometriosis | HS3ST3B1 | 9953 | heparan sulfate-glucosamine 3-sulfotransferase 3B1 | Q9Y662 |
| C0006142 | Malignant neoplasm of breast | HS3ST3A1 | 9955 | heparan sulfate-glucosamine 3-sulfotransferase 3A1 | Q9Y663 |
| C0678222 | Breast Carcinoma | HS3ST3A1 | 9955 | heparan sulfate-glucosamine 3-sulfotransferase 3A1 | Q9Y663 |
| C2930997 | Congenital disorder of glycosylation type 1C | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0282577 | Congenital Disorders of Glycosylation | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0349653 | Congenital disorder of glycosylation type 1A | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0038379 | Strabismus | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0014544 | Epilepsy | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0036572 | Seizures | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0272375 | Antithrombin III Deficiency | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
