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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 |
|---|---|---|---|---|---|
| C2717876 | Propionicaciduria | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C2717961 | Thrombotic Microangiopathies | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C2717961 | Thrombotic Microangiopathies | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C2717961 | Thrombotic Microangiopathies | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C2717961 | Thrombotic Microangiopathies | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C2717961 | Thrombotic Microangiopathies | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2717961 | Thrombotic Microangiopathies | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C2718067 | Alcoholic Steatohepatitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C2718067 | Alcoholic Steatohepatitis | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C2718068 | beta-Galactosidase Deficiency | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C2718068 | beta-Galactosidase Deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2718068 | beta-Galactosidase Deficiency | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C2718068 | beta-Galactosidase Deficiency | CTSA | 5476 | cathepsin A | P10619 |
| C2718068 | beta-Galactosidase Deficiency | OGA | 10724 | O-GlcNAcase | O60502 |
| C2718092 | Acrospiroma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C2720163 | Placental Steroid Sulfatase Deficiency | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C2720163 | Placental Steroid Sulfatase Deficiency | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C2720163 | Placental Steroid Sulfatase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2720163 | Placental Steroid Sulfatase Deficiency | STS | 412 | steroid sulfatase | P08842 |
| C2720289 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C2745959 | Spondyloepiphyseal dysplasia, congenita | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C2745959 | Spondyloepiphyseal dysplasia, congenita | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2745959 | Spondyloepiphyseal dysplasia, congenita | ACAN | 176 | aggrecan | P16112 |
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
