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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 ▲ |
|---|---|---|---|---|---|
| C0003873 | Rheumatoid Arthritis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0013384 | Dyskinetic syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0017205 | Gaucher Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1961835 | Gaucher Disease, Type 1 | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0025958 | Microcephaly | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0752347 | Lewy Body Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079744 | Diffuse Large B-Cell Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0030567 | Parkinson Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1332201 | Adult Diffuse Large B-Cell Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0268251 | Gaucher Disease, Type 3 (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0009806 | Constipation | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524851 | Neurodegenerative Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0085078 | Lysosomal Storage Diseases | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020224 | Polyhydramnios | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751772 | REM Sleep Behavior Disorder | GBA | 2629 | glucosylceramidase beta | P04062 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0037274 | Dermatologic disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079583 | Ichthyosiform Erythroderma, Congenital | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0085584 | Encephalopathies | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0024301 | Lymphoma, Follicular | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524620 | Metabolic Syndrome X | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0002871 | Anemia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0268250 | Gaucher Disease, Type 2 (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1332979 | Childhood Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
