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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 |
|---|---|---|---|---|---|
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0027651 | Neoplasms | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0338451 | Frontotemporal dementia | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C1306459 | Primary malignant neoplasm | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0036341 | Schizophrenia | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0497327 | Dementia | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0153633 | Malignant neoplasm of brain | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C1833219 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0013364 | Dysautonomia, Familial | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| 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 |
| C1970344 | Congenital Disorder Of Glycosylation, Type IIF | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0004153 | Atherosclerosis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0270764 | Motor Neuron Disease, Lower | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
