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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 |
|---|---|---|---|---|---|
| C0037769 | West Syndrome | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0037769 | West Syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0037769 | West Syndrome | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0037769 | West Syndrome | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0037769 | West Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0037769 | West Syndrome | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C3888896 | Wet age-related macular degeneration | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0949570 | Wheat Hypersensitivity | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0949570 | Wheat Hypersensitivity | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0175702 | Williams Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0175702 | Williams Syndrome | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0043194 | Wiskott-Aldrich Syndrome | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0043194 | Wiskott-Aldrich Syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0043194 | Wiskott-Aldrich Syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0043194 | Wiskott-Aldrich Syndrome | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0043194 | Wiskott-Aldrich Syndrome | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0043194 | Wiskott-Aldrich Syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1956097 | Wolf-Hirschhorn Syndrome | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0043202 | Wolff-Parkinson-White Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0043202 | Wolff-Parkinson-White Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0043202 | Wolff-Parkinson-White Syndrome | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0043207 | Wolfram Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0043208 | Wolman Disease | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0043208 | Wolman Disease | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0043208 | Wolman Disease | CEL | 1056 | carboxyl ester lipase | P19835 |
