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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 |
|---|---|---|---|---|---|
| C2717836 | Steroid Sulfatase Deficiency Disease | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C2717836 | Steroid Sulfatase Deficiency Disease | ANXA5 | 308 | annexin A5 | P08758 |
| C2717836 | Steroid Sulfatase Deficiency Disease | LGALS1 | 3956 | galectin 1 | P09382 |
| C2717836 | Steroid Sulfatase Deficiency Disease | STS | 412 | steroid sulfatase | P08842 |
| C2717836 | Steroid Sulfatase Deficiency Disease | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2717836 | Steroid Sulfatase Deficiency Disease | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C2717836 | Steroid Sulfatase Deficiency Disease | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2717836 | Steroid Sulfatase Deficiency Disease | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2713442 | Polyposis, Adenomatous Intestinal | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2713442 | Polyposis, Adenomatous Intestinal | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2713442 | Polyposis, Adenomatous Intestinal | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C2713442 | Polyposis, Adenomatous Intestinal | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2713392 | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C2713368 | Hematopoetic Myelodysplasia | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C2713368 | Hematopoetic Myelodysplasia | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C2713368 | Hematopoetic Myelodysplasia | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C2713347 | 7-Dehydrocholesterol Reductase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2713321 | alpha-L-Iduronidase Deficiency | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C2713319 | Arylsulfatase A Deficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C2712871 | Gout attack | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
