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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 |
|---|---|---|---|---|---|
| C0265101 | Carotid artery occlusion | ARSA | 410 | arylsulfatase A | P15289 |
| C0265101 | Carotid artery occlusion | KL | 9365 | klotho | Q9UEF7 |
| C0265101 | Carotid artery occlusion | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0265101 | Carotid artery occlusion | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265101 | Carotid artery occlusion | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0265101 | Carotid artery occlusion | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0265101 | Carotid artery occlusion | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0265110 | Cerebral Vasospasm | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0265110 | Cerebral Vasospasm | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0265110 | Cerebral Vasospasm | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0265122 | Disorder of pericardium | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0265210 | Weaver syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265213 | Distal arthrogryposis syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0265213 | Distal arthrogryposis syndrome | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0265213 | Distal arthrogryposis syndrome | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0265216 | X-linked hydrocephalus syndrome | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0265216 | X-linked hydrocephalus syndrome | CNTN5 | 53942 | contactin 5 | O94779 |
| C0265216 | X-linked hydrocephalus syndrome | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0265219 | Miller Dieker syndrome | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0265219 | Miller Dieker syndrome | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0265219 | Miller Dieker syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0265219 | Miller Dieker syndrome | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0265219 | Miller Dieker syndrome | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0265219 | Miller Dieker syndrome | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0265219 | Miller Dieker syndrome | CD33 | 945 | CD33 molecule | P20138 |
