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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 |
|---|---|---|---|---|---|
| C0007766 | Intracranial Aneurysm | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020758 | Congenital ichthyosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0085660 | Aseptic necrosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0027066 | Myoclonus | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0282513 | Primary Progressive Aphasia (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0031039 | Pericardial effusion | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0002736 | Amyotrophic Lateral Sclerosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0026650 | Movement Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0700095 | Central neuroblastoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0019163 | Hepatitis B | GBA | 2629 | glucosylceramidase beta | P04062 |
| C3203102 | Idiopathic pulmonary arterial hypertension | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0029464 | Osteosclerosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1276035 | Pena-Shokeir syndrome type I | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0018790 | Cardiac Arrest | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020255 | Hydrocephalus | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0030312 | Pancytopenia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0011633 | Dermatomyositis | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C1136249 | Mental Retardation, X-Linked | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C0004352 | Autistic Disorder | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C0006142 | Malignant neoplasm of breast | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C0027121 | Myositis | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C1510586 | Autism Spectrum Disorders | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C0019196 | Hepatitis C | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C0006142 | Malignant neoplasm of breast | PLA2G2D | 26279 | phospholipase A2 group IID | Q9UNK4 |
