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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 |
|---|---|---|---|---|---|
| C0037928 | Spinal Cord Diseases | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0037928 | Spinal Cord Diseases | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0037928 | Spinal Cord Diseases | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0037928 | Spinal Cord Diseases | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C0037928 | Spinal Cord Diseases | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C0037928 | Spinal Cord Diseases | CD38 | 952 | CD38 molecule | P28907 |
| C0037928 | Spinal Cord Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0037928 | Spinal Cord Diseases | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0752130 | Spinal Cord Ischemia | CD38 | 952 | CD38 molecule | P28907 |
| C0752130 | Spinal Cord Ischemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0752130 | Spinal Cord Ischemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0752130 | Spinal Cord Ischemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0752130 | Spinal Cord Ischemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0037930 | Spinal Cord Neoplasms | ARSA | 410 | arylsulfatase A | P15289 |
| C0037930 | Spinal Cord Neoplasms | TREH | 11181 | trehalase | O43280 |
| C0037930 | Spinal Cord Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0037930 | Spinal Cord Neoplasms | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0037930 | Spinal Cord Neoplasms | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0347515 | Spinal Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0026847 | Spinal Muscular Atrophy | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0026847 | Spinal Muscular Atrophy | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0026847 | Spinal Muscular Atrophy | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0026847 | Spinal Muscular Atrophy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0026847 | Spinal Muscular Atrophy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0026847 | Spinal Muscular Atrophy | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
