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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name ▲ | UniProt ID |
---|---|---|---|---|---|
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 |
C0005779 | Blood Coagulation Disorders | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
C0010346 | Crohn Disease | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
C0016202 | Flatfoot | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
C0022658 | Kidney Diseases | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0008533 | Hemophilia B | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C1264041 | von Willebrand Disease, Type 3 | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C3161650 | Primary immunoglobulin A nephropathy (disorder) | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0023449 | Acute lymphocytic leukemia | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0038454 | Cerebrovascular accident | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0023493 | Adult T-Cell Lymphoma/Leukemia | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0023492 | Leukemia, T-Cell | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0011847 | Diabetes | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0007282 | Carotid Stenosis | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0006142 | Malignant neoplasm of breast | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
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 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024