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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 |
|---|---|---|---|---|---|
| C4552072 | X-linked infantile spasms | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C4552072 | X-linked infantile spasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4552072 | X-linked infantile spasms | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C4552072 | X-linked infantile spasms | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C4552072 | X-linked infantile spasms | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C4552079 | Premature Ovarian Failure 1 | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C4552079 | Premature Ovarian Failure 1 | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C4552092 | Dowling-Degos disease 1 | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C4552092 | Dowling-Degos disease 1 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C4552100 | Lynch Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C4552100 | Lynch Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C4552100 | Lynch Syndrome | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C4552100 | Lynch Syndrome | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C4552100 | Lynch Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C4552100 | Lynch Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C4552100 | Lynch Syndrome | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C4552100 | Lynch Syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C4552100 | Lynch Syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C4552100 | Lynch Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4554007 | Uveoretinal Coloboma | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | KL | 9365 | klotho | Q9UEF7 |
| C4692625 | SHWACHMAN-DIAMOND SYNDROME 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4706552 | Familial vesicoureteral reflux | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
