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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 |
|---|---|---|---|---|---|
| C0235946 | Cerebral atrophy | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0235946 | Cerebral atrophy | ENO2 | 2026 | enolase 2 | P09104 |
| C0235946 | Cerebral atrophy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0235946 | Cerebral atrophy | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0235946 | Cerebral atrophy | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0235946 | Cerebral atrophy | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0235946 | Cerebral atrophy | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0235946 | Cerebral atrophy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0235946 | Cerebral atrophy | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0235946 | Cerebral atrophy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0235946 | Cerebral atrophy | KL | 9365 | klotho | Q9UEF7 |
| C0235946 | Cerebral atrophy | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0235946 | Cerebral atrophy | NANP | 140838 | N-acetylneuraminic acid phosphatase | Q8TBE9 |
| C0235946 | Cerebral atrophy | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0235946 | Cerebral atrophy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0235946 | Cerebral atrophy | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0235946 | Cerebral atrophy | FH | 2271 | fumarate hydratase | P07954 |
| C0235946 | Cerebral atrophy | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0235946 | Cerebral atrophy | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0235946 | Cerebral atrophy | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0235946 | Cerebral atrophy | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0235946 | Cerebral atrophy | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0235946 | Cerebral atrophy | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0235946 | Cerebral atrophy | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0235946 | Cerebral atrophy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
