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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 |
|---|---|---|---|---|---|
| C1691779 | Sensory hearing loss | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C1691228 | Cystic Kidney Diseases | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C1691228 | Cystic Kidney Diseases | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C1691228 | Cystic Kidney Diseases | ARF4 | 378 | ADP ribosylation factor 4 | P18085 |
| C1691228 | Cystic Kidney Diseases | UMOD | 7369 | uromodulin | P07911 |
| C1691228 | Cystic Kidney Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1691228 | Cystic Kidney Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1691013 | Macular corneal dystrophy Type II (disorder) | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C1690006 | Lattice corneal dystrophy Type I | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C1636149 | Macular dystrophy, corneal type 1 | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C1636149 | Macular dystrophy, corneal type 1 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1636149 | Macular dystrophy, corneal type 1 | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C1636149 | Macular dystrophy, corneal type 1 | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C1636149 | Macular dystrophy, corneal type 1 | CAT | 847 | catalase | P04040 |
| C1636149 | Macular dystrophy, corneal type 1 | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | THEM5 | 284486 | thioesterase superfamily member 5 | Q8N1Q8 |
| C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C1622510 | Neurocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1622502 | Portal cirrhosis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C1621958 | Glioblastoma Multiforme | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1621958 | Glioblastoma Multiforme | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1621958 | Glioblastoma Multiforme | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1621958 | Glioblastoma Multiforme | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1621958 | Glioblastoma Multiforme | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1621958 | Glioblastoma Multiforme | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
