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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 |
|---|---|---|---|---|---|
| C0086565 | Liver Dysfunction | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0006142 | Malignant neoplasm of breast | ASAH2B | 653308 | N-acylsphingosine amidohydrolase 2B | P0C7U1 |
| C0678222 | Breast Carcinoma | ASAH2B | 653308 | N-acylsphingosine amidohydrolase 2B | P0C7U1 |
| C1527366 | Salaam Seizures | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0011581 | Depressive disorder | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0684276 | Hypsarrhythmia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0238198 | Gastrointestinal Stromal Tumors | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0035220 | Respiratory Distress Syndrome, Newborn | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0027651 | Neoplasms | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0017636 | Glioblastoma | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0014457 | Eosinophilia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0235833 | Congenital diaphragmatic hernia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C3714756 | Intellectual Disability | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0015393 | Eye Abnormalities | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0036857 | Severe intellectual disability | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0006142 | Malignant neoplasm of breast | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0020192 | Hyaline Membrane Disease | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0025958 | Microcephaly | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0038273 | Stereotypic Movement Disorder | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0013384 | Dyskinetic syndrome | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0234533 | Generalized seizures | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0027051 | Myocardial Infarction | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0008489 | Chorea | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C1514422 | Glioblastoma, IDH-Wildtype | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
