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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 |
|---|---|---|---|---|---|
| C0265554 | Ectrodactyly | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0265554 | Ectrodactyly | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C0265673 | Congenital kyphosis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0265673 | Congenital kyphosis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0265673 | Congenital kyphosis | CALR | 811 | calreticulin | P27797 |
| C0265673 | Congenital kyphosis | CD38 | 952 | CD38 molecule | P28907 |
| C0265673 | Congenital kyphosis | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0265673 | Congenital kyphosis | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0265673 | Congenital kyphosis | LGALS1 | 3956 | galectin 1 | P09382 |
| C0265673 | Congenital kyphosis | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0265673 | Congenital kyphosis | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0265677 | Congenital hemivertebra | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0265677 | Congenital hemivertebra | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0265677 | Congenital hemivertebra | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0265677 | Congenital hemivertebra | CD38 | 952 | CD38 molecule | P28907 |
| C0265677 | Congenital hemivertebra | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0265706 | Gastroschisis | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0265706 | Gastroschisis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0265706 | Gastroschisis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0265950 | Venous malformation | LGALS3 | 3958 | galectin 3 | P17931 |
| C0265950 | Venous malformation | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0265950 | Venous malformation | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0265950 | Venous malformation | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265950 | Venous malformation | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0265950 | Venous malformation | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
