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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 |
|---|---|---|---|---|---|
| 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 |
| C0238463 | Papillary thyroid carcinoma | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0042769 | Virus Diseases | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0278878 | Adult Glioblastoma | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0007222 | Cardiovascular Diseases | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C1306459 | Primary malignant neoplasm | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0026764 | Multiple Myeloma | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0007131 | Non-Small Cell Lung Carcinoma | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0678222 | Breast Carcinoma | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0024299 | Lymphoma | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0740376 | Middle Cerebral Artery Thrombosis | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0085636 | Photophobia | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0006142 | Malignant neoplasm of breast | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0239946 | Fibrosis, Liver | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
