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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0036439 | Scoliosis, unspecified | FKTN | 2218 | fukutin | O75072 |
C0036439 | Scoliosis, unspecified | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
C0036439 | Scoliosis, unspecified | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
C0036439 | Scoliosis, unspecified | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
C0036439 | Scoliosis, unspecified | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
C0036439 | Scoliosis, unspecified | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
C0036439 | Scoliosis, unspecified | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
C0036439 | Scoliosis, unspecified | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0036439 | Scoliosis, unspecified | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
C0036439 | Scoliosis, unspecified | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
C0036439 | Scoliosis, unspecified | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
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 |
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Last updated: August 19, 2024