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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 |
|---|---|---|---|---|---|
| C0751783 | Lafora Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751783 | Lafora Disease | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0751783 | Lafora Disease | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0751783 | Lafora Disease | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0751783 | Lafora Disease | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0751783 | Lafora Disease | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751783 | Lafora Disease | PPP1R3B | 79660 | protein phosphatase 1 regulatory subunit 3B | Q86XI6 |
| C0751783 | Lafora Disease | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0751783 | Lafora Disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751783 | Lafora Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751782 | May-White Syndrome | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751782 | May-White Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751782 | May-White Syndrome | PRNP | 5621 | prion protein | P04156 |
| C0751782 | May-White Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751782 | May-White Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | PRNP | 5621 | prion protein | P04156 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751780 | Biotin-Responsive Encephalopathy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751780 | Biotin-Responsive Encephalopathy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751780 | Biotin-Responsive Encephalopathy | PRNP | 5621 | prion protein | P04156 |
