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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 |
|---|---|---|---|---|---|
| C0037769 | West Syndrome | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C1531647 | Cerebral ventriculomegaly | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0520947 | Clumsiness - motor delay | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0220981 | Metabolic acidosis | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0028738 | Nystagmus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0684276 | Hypsarrhythmia | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0003850 | Arteriosclerosis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0022568 | Keratitis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0155626 | Acute myocardial infarction | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0004096 | Asthma | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C1262117 | Fungal keratitis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0026769 | Multiple Sclerosis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0041327 | Tuberculosis, Pulmonary | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0027051 | Myocardial Infarction | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0041296 | Tuberculosis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0003873 | Rheumatoid Arthritis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0011581 | Depressive disorder | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0011570 | Mental Depression | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0003864 | Arthritis | CLEC4E | 26253 | C-type lectin domain family 4 member E | Q9ULY5 |
| C0020456 | Hyperglycemia | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0024623 | Malignant neoplasm of stomach | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0030567 | Parkinson Disease | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0003873 | Rheumatoid Arthritis | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0699791 | Stomach Carcinoma | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
| C0002395 | Alzheimer's Disease | FBXO2 | 26232 | F-box protein 2 | Q9UK22 |
