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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 ▲ |
|---|---|---|---|---|---|
| C0004352 | Autistic Disorder | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0029422 | Osteochondrodysplasias | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0282577 | Congenital Disorders of Glycosylation | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C1510586 | Autism Spectrum Disorders | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0017638 | Glioma | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036857 | Severe intellectual disability | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0014544 | Epilepsy | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0038454 | Cerebrovascular accident | MAN2B2 | 23324 | mannosidase alpha class 2B member 2 | Q9Y2E5 |
| C0021051 | Immunologic Deficiency Syndromes | MAN2B2 | 23324 | mannosidase alpha class 2B member 2 | Q9Y2E5 |
| C0796012 | Krause-Kivlin syndrome | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0036341 | Schizophrenia | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0024530 | Malaria | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0282577 | Congenital Disorders of Glycosylation | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0265259 | Popliteal pterygium syndrome | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0020473 | Hyperlipidemia | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0006142 | Malignant neoplasm of breast | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0011849 | Diabetes Mellitus | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0020456 | Hyperglycemia | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0011847 | Diabetes | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0030567 | Parkinson Disease | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0699790 | Colon Carcinoma | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0948008 | Ischemic stroke | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0206754 | Neuroendocrine Tumors | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0007102 | Malignant tumor of colon | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0085584 | Encephalopathies | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
