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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 |
|---|---|---|---|---|---|
| C0005283 | beta Thalassemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0005283 | beta Thalassemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0005283 | beta Thalassemia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C2718068 | beta-Galactosidase Deficiency | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C2718068 | beta-Galactosidase Deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2718068 | beta-Galactosidase Deficiency | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C2718068 | beta-Galactosidase Deficiency | CTSA | 5476 | cathepsin A | P10619 |
| C2718068 | beta-Galactosidase Deficiency | OGA | 10724 | O-GlcNAcase | O60502 |
| C4048196 | beta-Mannosidosis | MANBA | 4126 | mannosidase beta | O00462 |
| C4048196 | beta-Mannosidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0281267 | bilateral breast cancer | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0281267 | bilateral breast cancer | GALNT12 | 79695 | polypeptide N-acetylgalactosaminyltransferase 12 | Q8IXK2 |
| C0281267 | bilateral breast cancer | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0281267 | bilateral breast cancer | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0281267 | bilateral breast cancer | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0281267 | bilateral breast cancer | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4048328 | cervical cancer | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C4048328 | cervical cancer | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C4048328 | cervical cancer | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C4048328 | cervical cancer | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C4048328 | cervical cancer | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C4048328 | cervical cancer | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C4048328 | cervical cancer | B4GALT3 | 8703 | beta-1,4-galactosyltransferase 3 | O60512 |
| C4048328 | cervical cancer | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C4048328 | cervical cancer | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
