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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0016667 | Fragile X Syndrome | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
C0016667 | Fragile X Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0016667 | Fragile X Syndrome | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
C0016667 | Fragile X Syndrome | ICAM5 | 7087 | intercellular adhesion molecule 5 | Q9UMF0 |
C0016667 | Fragile X Syndrome | CAT | 847 | catalase | P04040 |
C0016667 | Fragile X Syndrome | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0016667 | Fragile X Syndrome | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C0016667 | Fragile X Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
C0016667 | Fragile X Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0016667 | Fragile X Syndrome | SDC2 | 6383 | syndecan 2 | P34741 |
C0016667 | Fragile X Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
C0016667 | Fragile X Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0016667 | Fragile X Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0016667 | Fragile X Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0016522 | Foramen Ovale, Patent | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0016522 | Foramen Ovale, Patent | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
C0016522 | Foramen Ovale, Patent | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
C0016522 | Foramen Ovale, Patent | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0016522 | Foramen Ovale, Patent | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
C0016522 | Foramen Ovale, Patent | GAA | 2548 | glucosidase alpha, acid | P10253 |
C0016522 | Foramen Ovale, Patent | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
C0016522 | Foramen Ovale, Patent | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
C0016522 | Foramen Ovale, Patent | RENBP | 5973 | renin binding protein | P51606 |
C0016522 | Foramen Ovale, Patent | TALDO1 | 6888 | transaldolase 1 | P37837 |
C0016522 | Foramen Ovale, Patent | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
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Last updated: August 19, 2024