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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 |
|---|---|---|---|---|---|
| C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0037268 | Skin Abnormalities | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0027888 | Hereditary Motor and Sensory Neuropathies | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0022593 | Keratosis | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0007134 | Renal Cell Carcinoma | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C1145628 | Autonomic nervous system disorders | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0020179 | Huntington Disease | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0524851 | Neurodegenerative Disorders | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0006142 | Malignant neoplasm of breast | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0017638 | Glioma | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0023473 | Myeloid Leukemia, Chronic | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0023787 | Lipodystrophy | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0029463 | Osteosarcoma | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0158981 | Neonatal diabetes mellitus | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0027051 | Myocardial Infarction | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1531647 | Cerebral ventriculomegaly | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0018802 | Congestive heart failure | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0494360 | Lipodystrophy, not elsewhere classified | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1306459 | Primary malignant neoplasm | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C3714756 | Intellectual Disability | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0023487 | Acute Promyelocytic Leukemia | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0036439 | Scoliosis, unspecified | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
