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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 |
|---|---|---|---|---|---|
| C1336076 | Sporadic Breast Carcinoma | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C1336076 | Sporadic Breast Carcinoma | HSD17B2 | 3294 | hydroxysteroid 17-beta dehydrogenase 2 | P37059 |
| C1336076 | Sporadic Breast Carcinoma | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C1336076 | Sporadic Breast Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1336076 | Sporadic Breast Carcinoma | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0149781 | Spontaneous pneumothorax | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0149781 | Spontaneous pneumothorax | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4281802 | Spongiform encephalopathy | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C4281802 | Spongiform encephalopathy | PRNP | 5621 | prion protein | P04156 |
| C4281802 | Spongiform encephalopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0038019 | Spondylosis | KL | 9365 | klotho | Q9UEF7 |
| C0038018 | Spondylolysis | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0038018 | Spondylolysis | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0038016 | Spondylolisthesis | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0038016 | Spondylolisthesis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0038016 | Spondylolisthesis | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0038016 | Spondylolisthesis | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0038016 | Spondylolisthesis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C2745959 | Spondyloepiphyseal dysplasia, congenita | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C2745959 | Spondyloepiphyseal dysplasia, congenita | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2745959 | Spondyloepiphyseal dysplasia, congenita | ACAN | 176 | aggrecan | P16112 |
| C1837657 | Spondyloepiphyseal dysplasia, Omani type | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C3541456 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C3541456 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0038015 | Spondyloepiphyseal Dysplasia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
