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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 | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0036439 | Scoliosis, unspecified | GUSB | 2990 | glucuronidase beta | P08236 |
| C0036439 | Scoliosis, unspecified | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0036439 | Scoliosis, unspecified | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0036439 | Scoliosis, unspecified | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0036439 | Scoliosis, unspecified | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0036439 | Scoliosis, unspecified | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0036439 | Scoliosis, unspecified | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0036439 | Scoliosis, unspecified | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0036439 | Scoliosis, unspecified | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0036439 | Scoliosis, unspecified | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0036439 | Scoliosis, unspecified | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036439 | Scoliosis, unspecified | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0036439 | Scoliosis, unspecified | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0036439 | Scoliosis, unspecified | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0036439 | Scoliosis, unspecified | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0036439 | Scoliosis, unspecified | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0036439 | Scoliosis, unspecified | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0036439 | Scoliosis, unspecified | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0036439 | Scoliosis, unspecified | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0036439 | Scoliosis, unspecified | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0036439 | Scoliosis, unspecified | CD38 | 952 | CD38 molecule | P28907 |
| C0036439 | Scoliosis, unspecified | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0036439 | Scoliosis, unspecified | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0036439 | Scoliosis, unspecified | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
