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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 |
|---|---|---|---|---|---|
| C4551854 | HYPOPLASTIC LEFT HEART SYNDROME 1 | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C0005586 | Bipolar Disorder | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C1306459 | Primary malignant neoplasm | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C0006826 | Malignant Neoplasms | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C0025517 | Metabolic Diseases | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C0009404 | Colorectal Neoplasms | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C1135868 | Gestational Trophoblastic Neoplasms | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| 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 |
