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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 ▲ |
|---|---|---|---|---|---|
| C0040761 | Transposition of Great Vessels | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0432333 | Abnormal dermatoglyphic pattern | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0494475 | Tonic - clonic seizures | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0010346 | Crohn Disease | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0038013 | Ankylosing spondylitis | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0006826 | Malignant Neoplasms | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0004238 | Atrial Fibrillation | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0235480 | Paroxysmal atrial fibrillation | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0269102 | Endometrioma | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0029408 | Degenerative polyarthritis | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0014175 | Endometriosis | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0235974 | Pancreatic carcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C2239176 | Liver carcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0346647 | Malignant neoplasm of pancreas | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0023467 | Leukemia, Myelocytic, Acute | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0007102 | Malignant tumor of colon | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0699790 | Colon Carcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0001418 | Adenocarcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0265343 | Jarcho-Levin syndrome | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036572 | Seizures | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036439 | Scoliosis, unspecified | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C3714756 | Intellectual Disability | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0025958 | Microcephaly | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0000768 | Congenital Abnormality | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0085136 | Central Nervous System Neoplasms | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
