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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 |
|---|---|---|---|---|---|
| C2751719 | ALCOHOL DEPENDENCE, PROTECTION AGAINST | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C2751842 | PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2751855 | Hypomyelination, Global Cerebral | ACAN | 176 | aggrecan | P16112 |
| C2751938 | Cerebral Palsy, Spastic Quadriplegic, 1 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C2752007 | Congenital Disorder of Glycosylation, Type Io | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C2752015 | Glycogen Storage Disease XIV | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C2752038 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C2752042 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | CAT | 847 | catalase | P04040 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2828721 | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C2873785 | Deficiency of factor V [labile] | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C2873785 | Deficiency of factor V [labile] | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C2875300 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C2875300 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C2875316 | Myotubular (centronuclear) myopathy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C2875316 | Myotubular (centronuclear) myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2875316 | Myotubular (centronuclear) myopathy | FKTN | 2218 | fukutin | O75072 |
| C2875316 | Myotubular (centronuclear) myopathy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C2875316 | Myotubular (centronuclear) myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
