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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 |
|---|---|---|---|---|---|
| C0002982 | Angioid Streaks | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0002982 | Angioid Streaks | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0002982 | Angioid Streaks | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0002982 | Angioid Streaks | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0002982 | Angioid Streaks | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0002985 | Angiokeratoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0002985 | Angiokeratoma | GLA | 2717 | galactosidase alpha | P06280 |
| C0002985 | Angiokeratoma | MANBA | 4126 | mannosidase beta | O00462 |
| C0002986 | Fabry Disease | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0002986 | Fabry Disease | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0002986 | Fabry Disease | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0002986 | Fabry Disease | GLA | 2717 | galactosidase alpha | P06280 |
| C0002986 | Fabry Disease | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0002986 | Fabry Disease | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0002986 | Fabry Disease | GUSB | 2990 | glucuronidase beta | P08236 |
| C0002986 | Fabry Disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0002986 | Fabry Disease | ARSA | 410 | arylsulfatase A | P15289 |
| C0002986 | Fabry Disease | ARSB | 411 | arylsulfatase B | P15848 |
| C0002986 | Fabry Disease | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0002986 | Fabry Disease | MANBA | 4126 | mannosidase beta | O00462 |
| C0002986 | Fabry Disease | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0002986 | Fabry Disease | CTSA | 5476 | cathepsin A | P10619 |
| C0002986 | Fabry Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0002986 | Fabry Disease | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002986 | Fabry Disease | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
