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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 |
|---|---|---|---|---|---|
| C2750786 | Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C2750787 | Weill-Marchesani-Like Syndrome | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C2750850 | GLIOMA SUSCEPTIBILITY 1 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKTN | 2218 | fukutin | O75072 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C2751306 | Polycystic kidney disease, type 2 | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C2751306 | Polycystic kidney disease, type 2 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C2751306 | Polycystic kidney disease, type 2 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C2751310 | Hyperuricemic Nephropathy, Familial Juvenile 2 | UMOD | 7369 | uromodulin | P07911 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | LCT | 3938 | lactase | P09848 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | GPC5 | 2262 | glypican 5 | P78333 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2751535 | Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C2751584 | Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR2 | 2350 | folate receptor beta | P14207 |
| C2751630 | Dursun Syndrome | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C2751642 | GLIOMA SUSCEPTIBILITY 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
