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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 |
|---|---|---|---|---|---|
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | CD22 | 933 | CD22 molecule | P20273 |
| C3266898 | Waardenburg Syndrome | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C3266898 | Waardenburg Syndrome | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C3266731 | 2-methyl-3-hydroxybutyric aciduria | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3266731 | 2-methyl-3-hydroxybutyric aciduria | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C3257801 | Dextrotransposition of aorta | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3257801 | Dextrotransposition of aorta | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3250443 | MYOTONIC DYSTROPHY 1 | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C3250443 | MYOTONIC DYSTROPHY 1 | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C3250443 | MYOTONIC DYSTROPHY 1 | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C3250443 | MYOTONIC DYSTROPHY 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3250443 | MYOTONIC DYSTROPHY 1 | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C3250443 | MYOTONIC DYSTROPHY 1 | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C3250443 | MYOTONIC DYSTROPHY 1 | CAT | 847 | catalase | P04040 |
| C3250443 | MYOTONIC DYSTROPHY 1 | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C3250443 | MYOTONIC DYSTROPHY 1 | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C3250443 | MYOTONIC DYSTROPHY 1 | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C3245525 | Familial renal glucosuria | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3245525 | Familial renal glucosuria | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3203653 | IgG4-Related Sclerosing Disease | ENO1 | 2023 | enolase 1 | P06733 |
| C3203653 | IgG4-Related Sclerosing Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3203653 | IgG4-Related Sclerosing Disease | SDC1 | 6382 | syndecan 1 | P18827 |
| C3203653 | IgG4-Related Sclerosing Disease | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C3203102 | Idiopathic pulmonary arterial hypertension | CHST13 | 166012 | carbohydrate sulfotransferase 13 | Q8NET6 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
