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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 |
|---|---|---|---|---|---|
| C4048158 | Convulsions | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C4048158 | Convulsions | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C4048158 | Convulsions | CAT | 847 | catalase | P04040 |
| C4048158 | Convulsions | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4048158 | Convulsions | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C4048158 | Convulsions | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C4048158 | Convulsions | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C4048158 | Convulsions | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C4048158 | Convulsions | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C4048158 | Convulsions | ME1 | 4199 | malic enzyme 1 | P48163 |
| C4048158 | Convulsions | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4045991 | Perihilar Cholangiocarcinoma | ARSA | 410 | arylsulfatase A | P15289 |
| C4045991 | Perihilar Cholangiocarcinoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C4041558 | Cone-rod synaptic disorder, congenital nonprogressive | NYX | 60506 | nyctalopin | Q9GZU5 |
| C4041080 | Neurocognitive Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4041080 | Neurocognitive Disorders | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C4041080 | Neurocognitive Disorders | CD38 | 952 | CD38 molecule | P28907 |
| C4015619 | EPILEPSY, PROGRESSIVE MYOCLONIC, 8 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C4015597 | MYASTHENIC SYNDROME, CONGENITAL, 14 | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C4015596 | MYASTHENIC SYNDROME, CONGENITAL, 15 | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | FKTN | 2218 | fukutin | O75072 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
