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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 | 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 |
| C0235946 | Cerebral atrophy | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0235946 | Cerebral atrophy | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0235946 | Cerebral atrophy | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0235946 | Cerebral atrophy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0235946 | Cerebral atrophy | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0235946 | Cerebral atrophy | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0235946 | Cerebral atrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0235946 | Cerebral atrophy | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0235946 | Cerebral atrophy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0235946 | Cerebral atrophy | CD14 | 929 | CD14 molecule | P08571 |
| C0235946 | Cerebral atrophy | CD33 | 945 | CD33 molecule | P20138 |
| C0235946 | Cerebral atrophy | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0235946 | Cerebral atrophy | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0235946 | Cerebral atrophy | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0235946 | Cerebral atrophy | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0235946 | Cerebral atrophy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0235946 | Cerebral atrophy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0235946 | Cerebral atrophy | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0235946 | Cerebral atrophy | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0235946 | Cerebral atrophy | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1836033 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
