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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 ▲ |
|---|---|---|---|---|---|
| C0027765 | nervous system disorder | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0152025 | Polyneuropathy | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0023521 | Globoid cell leukodystrophy | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0011570 | Mental Depression | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0036572 | Seizures | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0152018 | Esophageal carcinoma | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0017636 | Glioblastoma | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0028738 | Nystagmus | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0014868 | Esophagitis | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0014070 | Encephalomyelitis | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0278878 | Adult Glioblastoma | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0002726 | Amyloidosis | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0020456 | Hyperglycemia | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C1621958 | Glioblastoma Multiforme | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0011581 | Depressive disorder | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0002395 | Alzheimer's Disease | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0006826 | Malignant Neoplasms | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0036439 | Scoliosis, unspecified | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0013170 | Drug habituation | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C3714756 | Intellectual Disability | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C1857242 | Rhizomelic chondrodysplasia punctata, type 2 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0018995 | Hemochromatosis | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
