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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 |
|---|---|---|---|---|---|
| C0234533 | Generalized seizures | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0003873 | Rheumatoid Arthritis | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0342276 | Maturity onset diabetes mellitus in young | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0011849 | Diabetes Mellitus | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0751955 | Brain Infarction | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0020538 | Hypertensive disease | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C1956346 | Coronary Artery Disease | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C4317295 | Congenital disorder of glycosylation type 1s | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0036572 | Seizures | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0011849 | Diabetes Mellitus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0025958 | Microcephaly | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0013336 | Dwarfism | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C3665347 | Visual Impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0037769 | West Syndrome | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C1458140 | Bleeding tendency | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0282577 | Congenital Disorders of Glycosylation | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0011847 | Diabetes | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0027066 | Myoclonus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0036341 | Schizophrenia | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0038379 | Strabismus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0036857 | Severe intellectual disability | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C1384666 | hearing impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
