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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C4048328 | cervical cancer | TKT | 7086 | transketolase | P29401 |
C4048328 | cervical cancer | TKTL1 | 8277 | transketolase like 1 | P51854 |
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 |
C4048196 | beta-Mannosidosis | MANBA | 4126 | mannosidase beta | O00462 |
C4048196 | beta-Mannosidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
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 |
C0005283 | beta Thalassemia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
C0005283 | beta Thalassemia | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
C0005283 | beta Thalassemia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
C0005283 | beta Thalassemia | CHIT1 | 1118 | chitinase 1 | Q13231 |
C0005283 | beta Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0005283 | beta Thalassemia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
C0005283 | beta Thalassemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
C0005283 | beta Thalassemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
C0005283 | beta Thalassemia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
C0005283 | beta Thalassemia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
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Last updated: August 19, 2024