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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 |
|---|---|---|---|---|---|
| C0036439 | Scoliosis, unspecified | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0036439 | Scoliosis, unspecified | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0036439 | Scoliosis, unspecified | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0036439 | Scoliosis, unspecified | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0036439 | Scoliosis, unspecified | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0036439 | Scoliosis, unspecified | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0036439 | Scoliosis, unspecified | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0036439 | Scoliosis, unspecified | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0036439 | Scoliosis, unspecified | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0036439 | Scoliosis, unspecified | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0036439 | Scoliosis, unspecified | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0036439 | Scoliosis, unspecified | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0036439 | Scoliosis, unspecified | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0036439 | Scoliosis, unspecified | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0748540 | Scleroderma, Limited | CD22 | 933 | CD22 molecule | P20273 |
| C0011644 | Scleroderma | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0011644 | Scleroderma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0011644 | Scleroderma | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0011644 | Scleroderma | KL | 9365 | klotho | Q9UEF7 |
| C0011644 | Scleroderma | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0011644 | Scleroderma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0011644 | Scleroderma | LGALS3 | 3958 | galectin 3 | P17931 |
| C0011644 | Scleroderma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0011644 | Scleroderma | CAT | 847 | catalase | P04040 |
| C0011644 | Scleroderma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
