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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 |
|---|---|---|---|---|---|
| C0038273 | Stereotypic Movement Disorder | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0038273 | Stereotypic Movement Disorder | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0038273 | Stereotypic Movement Disorder | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0038273 | Stereotypic Movement Disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0038273 | Stereotypic Movement Disorder | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0038273 | Stereotypic Movement Disorder | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0038273 | Stereotypic Movement Disorder | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0038273 | Stereotypic Movement Disorder | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0038273 | Stereotypic Movement Disorder | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0038273 | Stereotypic Movement Disorder | TKT | 7086 | transketolase | P29401 |
| C2717836 | Steroid Sulfatase Deficiency Disease | HPSE | 10855 | heparanase | Q9Y251 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C2717836 | Steroid Sulfatase Deficiency Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2717836 | Steroid Sulfatase Deficiency Disease | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
| C2717836 | Steroid Sulfatase Deficiency Disease | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C2717836 | Steroid Sulfatase Deficiency Disease | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| 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 |
