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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 |
|---|---|---|---|---|---|
| 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 |
| C2828721 | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| 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 |
| C2752042 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2752038 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C2752015 | Glycogen Storage Disease XIV | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C2752007 | Congenital Disorder of Glycosylation, Type Io | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C2751938 | Cerebral Palsy, Spastic Quadriplegic, 1 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C2751855 | Hypomyelination, Global Cerebral | ACAN | 176 | aggrecan | P16112 |
| C2751842 | PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2751719 | ALCOHOL DEPENDENCE, PROTECTION AGAINST | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C2751642 | GLIOMA SUSCEPTIBILITY 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2751630 | Dursun Syndrome | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C2751584 | Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR2 | 2350 | folate receptor beta | P14207 |
| C2751535 | Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| 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 |
