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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 | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0036439 | Scoliosis, unspecified | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0036439 | Scoliosis, unspecified | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0036439 | Scoliosis, unspecified | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0036439 | Scoliosis, unspecified | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0036439 | Scoliosis, unspecified | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0036439 | Scoliosis, unspecified | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036439 | Scoliosis, unspecified | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0036439 | Scoliosis, unspecified | GPC3 | 2719 | glypican 3 | P51654 |
| C0036439 | Scoliosis, unspecified | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0036439 | Scoliosis, unspecified | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0036439 | Scoliosis, unspecified | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0036439 | Scoliosis, unspecified | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0036439 | Scoliosis, unspecified | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| 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 |
