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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 |
|---|---|---|---|---|---|
| C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3661525 | Autosomal Recessive Chronic Granulomatous Disease | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C3665335 | Cutis laxa, autosomal recessive | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C3665335 | Cutis laxa, autosomal recessive | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C3665347 | Visual Impairment | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3665347 | Visual Impairment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3665347 | Visual Impairment | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3665347 | Visual Impairment | FKTN | 2218 | fukutin | O75072 |
| C3665347 | Visual Impairment | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3665347 | Visual Impairment | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C3665347 | Visual Impairment | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C3665347 | Visual Impairment | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C3665347 | Visual Impairment | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C3665347 | Visual Impairment | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C3665347 | Visual Impairment | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3665347 | Visual Impairment | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C3665347 | Visual Impairment | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3665347 | Visual Impairment | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C3665347 | Visual Impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3665347 | Visual Impairment | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C3665347 | Visual Impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
