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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 ▼ |
|---|---|---|---|---|---|
| C0025202 | melanoma | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0024138 | Lupus Erythematosus, Discoid | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0019158 | Hepatitis | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0002395 | Alzheimer's Disease | MOGAT3 | 346606 | monoacylglycerol O-acyltransferase 3 | Q86VF5 |
| C0400966 | Non-alcoholic Fatty Liver Disease | MOGAT3 | 346606 | monoacylglycerol O-acyltransferase 3 | Q86VF5 |
| C0023290 | Leishmaniasis, Visceral | PIGZ | 80235 | phosphatidylinositol glycan anchor biosynthesis class Z | Q86VD9 |
| C0700095 | Central neuroblastoma | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0027819 | Neuroblastoma | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0023467 | Leukemia, Myelocytic, Acute | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C2711227 | Steatohepatitis | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0243026 | Sepsis | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0400966 | Non-alcoholic Fatty Liver Disease | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0028754 | Obesity | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0009402 | Colorectal Carcinoma | RTN4RL2 | 349667 | reticulon 4 receptor like 2 | Q86UN3 |
| C2931822 | Nasopharyngeal carcinoma | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0152021 | Congenital heart disease | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0023467 | Leukemia, Myelocytic, Acute | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | GPAT4 | 137964 | glycerol-3-phosphate acyltransferase 4 | Q86UL3 |
| C0023903 | Liver neoplasms | ACOT1 | 641371 | acyl-CoA thioesterase 1 | Q86TX2 |
| C0345904 | Malignant neoplasm of liver | ACOT1 | 641371 | acyl-CoA thioesterase 1 | Q86TX2 |
| C0278701 | Gastric Adenocarcinoma | ACOT1 | 641371 | acyl-CoA thioesterase 1 | Q86TX2 |
| C4721610 | Carcinoma, Ovarian Epithelial | CLEC14A | 161198 | C-type lectin domain containing 14A | Q86T13 |
| C0027651 | Neoplasms | CLEC14A | 161198 | C-type lectin domain containing 14A | Q86T13 |
