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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 |
|---|---|---|---|---|---|
| C0271979 | Thalassemia Intermedia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0272137 | Tn Syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0272137 | Tn Syndrome | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0272137 | Tn Syndrome | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0272170 | Shwachman syndrome | LYZ | 4069 | lysozyme | P61626 |
| C0272170 | Shwachman syndrome | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0272170 | Shwachman syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0272170 | Shwachman syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0272187 | Congenital leukocyte adherence deficiency | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0272199 | Familial Hemophagocytic Lymphocytosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0272236 | Hyperimmunoglobulin M syndrome | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0272236 | Hyperimmunoglobulin M syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0272236 | Hyperimmunoglobulin M syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0272236 | Hyperimmunoglobulin M syndrome | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0272238 | Transient hypogammaglobulinemia of infancy | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0272242 | Complement deficiency disease | CALR | 811 | calreticulin | P27797 |
| C0272242 | Complement deficiency disease | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0272242 | Complement deficiency disease | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0272242 | Complement deficiency disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0272242 | Complement deficiency disease | FCN3 | 8547 | ficolin 3 | O75636 |
| C0272286 | Thrombocytopenia due to platelet alloimmunization | HPSE | 10855 | heparanase | Q9Y251 |
| C0272286 | Thrombocytopenia due to platelet alloimmunization | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0272286 | Thrombocytopenia due to platelet alloimmunization | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0272286 | Thrombocytopenia due to platelet alloimmunization | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C0272286 | Thrombocytopenia due to platelet alloimmunization | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
