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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 ▼ |
|---|---|---|---|---|---|
| C1833921 | Familial medullary thyroid carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0338831 | Manic | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0014850 | Esophageal Atresia | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1970820 | Fabry Disease, Cardiac Variant | GLA | 2717 | galactosidase alpha | P06280 |
| C0027051 | Myocardial Infarction | GLA | 2717 | galactosidase alpha | P06280 |
| C0002986 | Fabry Disease | GLA | 2717 | galactosidase alpha | P06280 |
| C0031117 | Peripheral Neuropathy | GLA | 2717 | galactosidase alpha | P06280 |
| C0409959 | Osteoarthritis, Knee | GLA | 2717 | galactosidase alpha | P06280 |
| C0085078 | Lysosomal Storage Diseases | GLA | 2717 | galactosidase alpha | P06280 |
| C0022661 | Kidney Failure, Chronic | GLA | 2717 | galactosidase alpha | P06280 |
| C3276706 | Small Fiber Neuropathy | GLA | 2717 | galactosidase alpha | P06280 |
| C0011849 | Diabetes Mellitus | GLA | 2717 | galactosidase alpha | P06280 |
| C0007194 | Hypertrophic Cardiomyopathy | GLA | 2717 | galactosidase alpha | P06280 |
| C0003811 | Cardiac Arrhythmia | GLA | 2717 | galactosidase alpha | P06280 |
| C0026769 | Multiple Sclerosis | GLA | 2717 | galactosidase alpha | P06280 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | GLA | 2717 | galactosidase alpha | P06280 |
| C0030567 | Parkinson Disease | GLA | 2717 | galactosidase alpha | P06280 |
| C1145628 | Autonomic nervous system disorders | GLA | 2717 | galactosidase alpha | P06280 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | GLA | 2717 | galactosidase alpha | P06280 |
| C0020538 | Hypertensive disease | GLA | 2717 | galactosidase alpha | P06280 |
| C0878544 | Cardiomyopathies | GLA | 2717 | galactosidase alpha | P06280 |
| C0022658 | Kidney Diseases | GLA | 2717 | galactosidase alpha | P06280 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | GLA | 2717 | galactosidase alpha | P06280 |
| C0029408 | Degenerative polyarthritis | GLA | 2717 | galactosidase alpha | P06280 |
| C0017205 | Gaucher Disease | GLA | 2717 | galactosidase alpha | P06280 |
