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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 |
|---|---|---|---|---|---|
| C0000768 | Congenital Abnormality | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0000768 | Congenital Abnormality | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0000768 | Congenital Abnormality | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C1853736 | Congenital Disorder Of Glycosylation, Type IIB | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C1970344 | Congenital Disorder Of Glycosylation, Type IIF | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C1970021 | Congenital Disorder Of Glycosylation, Type IIH | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1835849 | Congenital Disorder Of Glycosylation, Type Im | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C2752007 | Congenital Disorder of Glycosylation, Type Io | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0282577 | Congenital Disorders of Glycosylation | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0282577 | Congenital Disorders of Glycosylation | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0282577 | Congenital Disorders of Glycosylation | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0282577 | Congenital Disorders of Glycosylation | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0282577 | Congenital Disorders of Glycosylation | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0282577 | Congenital Disorders of Glycosylation | B4GALT1 | 2683 | beta-1,4-galactosyltransferase 1 | P15291 |
| C0282577 | Congenital Disorders of Glycosylation | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0282577 | Congenital Disorders of Glycosylation | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0282577 | Congenital Disorders of Glycosylation | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0282577 | Congenital Disorders of Glycosylation | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0282577 | Congenital Disorders of Glycosylation | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0282577 | Congenital Disorders of Glycosylation | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
