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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 |
|---|---|---|---|---|---|
| C0393524 | Cerebellar Ataxia, Late Onset | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C4551552 | Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0007760 | Cerebellar Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007760 | Cerebellar Diseases | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0007760 | Cerebellar Diseases | PRNP | 5621 | prion protein | P04156 |
| C0007760 | Cerebellar Diseases | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0007760 | Cerebellar Diseases | PRNP | 5621 | prion protein | F7VJQ1 |
| C1834712 | Cerebellar Granule Cell Hypertrophy and Megalencephaly | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1834712 | Cerebellar Granule Cell Hypertrophy and Megalencephaly | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0007762 | Cerebellar Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1510489 | Cerebral Amyloid Angiopathy, Hereditary | SDC2 | 6383 | syndecan 2 | P34741 |
| C0917996 | Cerebral Aneurysm | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0917996 | Cerebral Aneurysm | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0917996 | Cerebral Aneurysm | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0917996 | Cerebral Aneurysm | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0238051 | Cerebral Angiitis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0877854 | Cerebral Arteriosclerosis | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1838577 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | CTSA | 5476 | cathepsin A | P10619 |
| C0751303 | Cerebral Convexity Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0006114 | Cerebral Edema | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0006114 | Cerebral Edema | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0006114 | Cerebral Edema | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0006114 | Cerebral Edema | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0006114 | Cerebral Edema | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0007780 | Cerebral Embolism | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
