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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 |
|---|---|---|---|---|---|
| C4479387 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C4479387 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C4479353 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C4479313 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4479208 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C4479088 | MYASTHENIC SYNDROME, CONGENITAL, 22 | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C4478379 | MENTAL RETARDATION, X-LINKED 106 | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C4329210 | 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C4324656 | Non-squamous non-small cell lung cancer | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4324656 | Non-squamous non-small cell lung cancer | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4324656 | Non-squamous non-small cell lung cancer | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4324656 | Non-squamous non-small cell lung cancer | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C4317295 | Congenital disorder of glycosylation type 1s | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C4317295 | Congenital disorder of glycosylation type 1s | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C4317295 | Congenital disorder of glycosylation type 1s | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C4317295 | Congenital disorder of glycosylation type 1s | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C4317295 | Congenital disorder of glycosylation type 1s | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C4317295 | Congenital disorder of glycosylation type 1s | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C4317295 | Congenital disorder of glycosylation type 1s | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C4317295 | Congenital disorder of glycosylation type 1s | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C4317295 | Congenital disorder of glycosylation type 1s | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
