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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 |
|---|---|---|---|---|---|
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0027092 | Myopia | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0020676 | Hypothyroidism | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0036439 | Scoliosis, unspecified | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0014527 | Epidermolysis Bullosa | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0017636 | Glioblastoma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0006826 | Malignant Neoplasms | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0268524 | gamma-Glutamyltransferase deficiency | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0079298 | Epidermolysis Bullosa Simplex | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C2239176 | Liver carcinoma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0023418 | leukemia | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| C0027651 | Neoplasms | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| C0079731 | B-Cell Lymphomas | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| C1332977 | Childhood Leukemia | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| C0020615 | Hypoglycemia | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0017919 | Glycogen Storage Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0017921 | Glycogen storage disease type II | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0006826 | Malignant Neoplasms | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0010068 | Coronary heart disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0342751 | Generalized glycogen storage disease of infants | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0026848 | Myopathy | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C1862103 | Brachydactyly type C | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0011849 | Diabetes Mellitus | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0027651 | Neoplasms | MGAM | 8972 | maltase-glucoamylase | O43451 |
