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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 |
|---|---|---|---|---|---|
| C0022410 | Joint Instability | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C3489393 | Hiatal Hernia | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1531647 | Cerebral ventriculomegaly | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0027726 | Nephrotic Syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0035305 | Retinal Detachment | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0038379 | Strabismus | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0265213 | Distal arthrogryposis syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C4551497 | Ehlers-Danlos syndrome kyphoscoliotic type | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0020295 | Hydronephrosis | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0030297 | Pancreatic Neoplasm | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| 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 |
| C0013473 | Eating Disorders | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0030567 | Parkinson Disease | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C1621958 | Glioblastoma Multiforme | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0026769 | Multiple Sclerosis | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0011581 | Depressive disorder | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0678222 | Breast Carcinoma | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
