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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 |
|---|---|---|---|---|---|
| C2931822 | Nasopharyngeal carcinoma | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C3495417 | Hemifacial microsomia | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0010068 | Coronary heart disease | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0025202 | melanoma | LYPLA2 | 11313 | lysophospholipase 2 | O95372 |
| C0020474 | Hyperlipidemia, Familial Combined | LYPLA2 | 11313 | lysophospholipase 2 | O95372 |
| C0008925 | Cleft Palate | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0009081 | Congenital clubfoot | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0013720 | Ehlers-Danlos Syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0009806 | Constipation | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0032326 | Pneumothorax | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0010417 | Cryptorchidism | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0017601 | Glaucoma | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0000768 | Congenital Abnormality | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1306503 | Congenital exomphalos | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0033578 | Prostatic Neoplasms | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0026848 | Myopathy | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0520947 | Clumsiness - motor delay | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0036439 | Scoliosis, unspecified | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1301937 | Talipes | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0027092 | Myopia | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0221356 | Brachycephaly | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0266544 | Microcornea | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0376358 | Malignant neoplasm of prostate | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0018817 | Atrial Septal Defects | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1384666 | hearing impairment | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
