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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 | 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 |
| 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 |
