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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 | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036439 | Scoliosis, unspecified | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0036439 | Scoliosis, unspecified | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0036439 | Scoliosis, unspecified | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0036439 | Scoliosis, unspecified | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0036439 | Scoliosis, unspecified | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0036439 | Scoliosis, unspecified | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0036439 | Scoliosis, unspecified | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0036439 | Scoliosis, unspecified | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0036439 | Scoliosis, unspecified | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0036439 | Scoliosis, unspecified | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0036439 | Scoliosis, unspecified | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0036439 | Scoliosis, unspecified | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0036439 | Scoliosis, unspecified | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| 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 |
