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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 | 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 |
| C0036439 | Scoliosis, unspecified | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0036439 | Scoliosis, unspecified | ACAN | 176 | aggrecan | P16112 |
| C0036439 | Scoliosis, unspecified | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0036439 | Scoliosis, unspecified | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0036439 | Scoliosis, unspecified | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0036439 | Scoliosis, unspecified | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0036439 | Scoliosis, unspecified | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0036439 | Scoliosis, unspecified | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0036439 | Scoliosis, unspecified | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0036439 | Scoliosis, unspecified | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0036439 | Scoliosis, unspecified | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
