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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 | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0235946 | Cerebral atrophy | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0235946 | Cerebral atrophy | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0235946 | Cerebral atrophy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0235946 | Cerebral atrophy | PIGG | 54872 | phosphatidylinositol glycan anchor biosynthesis class G | Q5H8A4 |
| C0235946 | Cerebral atrophy | KL | 9365 | klotho | Q9UEF7 |
| C0235946 | Cerebral atrophy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0235946 | Cerebral atrophy | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0235946 | Cerebral atrophy | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0235946 | Cerebral atrophy | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0235946 | Cerebral atrophy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0235946 | Cerebral atrophy | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0235946 | Cerebral atrophy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0235946 | Cerebral atrophy | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0235946 | Cerebral atrophy | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0235946 | Cerebral atrophy | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0235946 | Cerebral atrophy | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0235946 | Cerebral atrophy | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0235946 | Cerebral atrophy | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0235946 | Cerebral atrophy | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0235946 | Cerebral atrophy | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0235946 | Cerebral atrophy | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0235946 | Cerebral atrophy | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0235946 | Cerebral atrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0235946 | Cerebral atrophy | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
