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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 |
|---|---|---|---|---|---|
| C0342751 | Generalized glycogen storage disease of infants | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0342751 | Generalized glycogen storage disease of infants | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0342751 | Generalized glycogen storage disease of infants | STBD1 | 8987 | starch binding domain 1 | O95210 |
| C0342751 | Generalized glycogen storage disease of infants | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0342751 | Generalized glycogen storage disease of infants | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0342751 | Generalized glycogen storage disease of infants | SI | 6476 | sucrase-isomaltase | P14410 |
| C0342751 | Generalized glycogen storage disease of infants | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0342751 | Generalized glycogen storage disease of infants | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0342770 | Fumarase deficiency | ACO2 | 50 | aconitase 2 | Q99798 |
| C0342770 | Fumarase deficiency | FH | 2271 | fumarate hydratase | P07954 |
| C0342782 | Depletion of mitochondrial DNA | CS | 1431 | citrate synthase | O75390 |
| C0342782 | Depletion of mitochondrial DNA | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0342782 | Depletion of mitochondrial DNA | ACO2 | 50 | aconitase 2 | Q99798 |
| C0342782 | Depletion of mitochondrial DNA | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0342782 | Depletion of mitochondrial DNA | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0342782 | Depletion of mitochondrial DNA | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0342782 | Depletion of mitochondrial DNA | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0342782 | Depletion of mitochondrial DNA | DGKB | 1607 | diacylglycerol kinase beta | Q9Y6T7 |
