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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 |
|---|---|---|---|---|---|
| C0497327 | Dementia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0497327 | Dementia | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0497327 | Dementia | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0497327 | Dementia | ARSA | 410 | arylsulfatase A | P15289 |
| C0497327 | Dementia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0497327 | Dementia | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0497327 | Dementia | PSAP | 5660 | prosaposin | P07602 |
| C0497327 | Dementia | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0497327 | Dementia | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0497327 | Dementia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0497327 | Dementia | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0497327 | Dementia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0497327 | Dementia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0497327 | Dementia | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0497327 | Dementia | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0497327 | Dementia | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0497327 | Dementia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0497327 | Dementia | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C0497327 | Dementia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0497327 | Dementia | KL | 9365 | klotho | Q9UEF7 |
| C0497327 | Dementia | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0497327 | Dementia | CD38 | 952 | CD38 molecule | P28907 |
| C0497327 | Dementia | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0497327 | Dementia | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0497327 | Dementia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
