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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 |
|---|---|---|---|---|---|
| C0027051 | Myocardial Infarction | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0011991 | Diarrhea | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0007959 | Charcot-Marie-Tooth Disease | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C4721453 | Peripheral Nervous System Diseases | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C2239176 | Liver carcinoma | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0003028 | Anhidrosis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0029443 | Osteomyelitis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0752125 | Spinocerebellar Ataxia Type 7 | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0524851 | Neurodegenerative Disorders | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0151313 | Sensory neuropathy | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C1168401 | Squamous cell carcinoma of the head and neck | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0031117 | Peripheral Neuropathy | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0243026 | Sepsis | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0030567 | Parkinson Disease | SPTSSB | 165679 | serine palmitoyltransferase small subunit B | Q8NFR3 |
| C0206754 | Neuroendocrine Tumors | SQLE | 6713 | squalene epoxidase | Q14534 |
| C2239176 | Liver carcinoma | SQLE | 6713 | squalene epoxidase | Q14534 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0600139 | Prostate carcinoma | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0242379 | Malignant neoplasm of lung | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0684249 | Carcinoma of lung | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0206695 | Carcinoma, Neuroendocrine | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0279626 | Squamous cell carcinoma of esophagus | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0009402 | Colorectal Carcinoma | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0400966 | Non-alcoholic Fatty Liver Disease | SQLE | 6713 | squalene epoxidase | Q14534 |
