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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 |
|---|---|---|---|---|---|
| C0206733 | Strawberry nevus of skin | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0206733 | Strawberry nevus of skin | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0206733 | Strawberry nevus of skin | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0038379 | Strabismus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0038379 | Strabismus | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0038379 | Strabismus | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0038379 | Strabismus | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0038379 | Strabismus | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0038379 | Strabismus | FKTN | 2218 | fukutin | O75072 |
| C0038379 | Strabismus | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0038379 | Strabismus | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0038379 | Strabismus | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0038379 | Strabismus | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0038379 | Strabismus | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0038379 | Strabismus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0038379 | Strabismus | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0038379 | Strabismus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0038379 | Strabismus | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0038379 | Strabismus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0038379 | Strabismus | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0038379 | Strabismus | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0038379 | Strabismus | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0038379 | Strabismus | GALC | 2581 | galactosylceramidase | P54803 |
| C0038379 | Strabismus | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0038379 | Strabismus | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
