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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 |
|---|---|---|---|---|---|
| C3887499 | Renal cyst | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1720416 | Episodic ataxia type 2 (disorder) | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0005283 | beta Thalassemia | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1832884 | Hemiplegic migraine, familial type 1 | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0394006 | Dysequilibrium syndrome | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0678222 | Breast Carcinoma | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0006142 | Malignant neoplasm of breast | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C2239176 | Liver carcinoma | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0265706 | Gastroschisis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0010051 | Coronary Aneurysm | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C1704436 | Peripheral Arterial Diseases | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0023281 | Leishmaniasis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0007222 | Cardiovascular Diseases | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0039103 | Synovitis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C1306459 | Primary malignant neoplasm | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0010068 | Coronary heart disease | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0005695 | Bladder Neoplasm | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0017636 | Glioblastoma | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C1861172 | Venous Thromboembolism | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0011581 | Depressive disorder | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0003615 | Appendicitis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0003869 | Arthritis, Infectious | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0014742 | Erythema Multiforme | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
