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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 ▲ |
|---|---|---|---|---|---|
| C0029422 | Osteochondrodysplasias | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0011847 | Diabetes | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0342384 | Idiopathic hypogonadotropic hypogonadism | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C1800706 | Idiopathic Pulmonary Fibrosis | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0271623 | Hypogonadotropic hypogonadism | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0036341 | Schizophrenia | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0018418 | Gynecomastia | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0009398 | Color vision defect | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0010417 | Cryptorchidism | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0036572 | Seizures | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0028754 | Obesity | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C1609433 | Congenital absence of kidneys syndrome | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0220748 | Cartilage-hair hypoplasia | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0003467 | Anxiety | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0018784 | Sensorineural Hearing Loss (disorder) | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C3665347 | Visual Impairment | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0011849 | Diabetes Mellitus | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0011581 | Depressive disorder | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0005745 | Blepharoptosis | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0030486 | Paraplegia | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0028738 | Nystagmus | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C1969655 | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C1134719 | Invasive Ductal Breast Carcinoma | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C0006142 | Malignant neoplasm of breast | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C0678222 | Breast Carcinoma | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
