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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 |
|---|---|---|---|---|---|
| C0268194 | Phosphoenolpyruvate carboxykinase deficiency | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0268194 | Phosphoenolpyruvate carboxykinase deficiency | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0268225 | Aspartylglucosaminuria | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0268226 | Type I Mucolipidosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268226 | Type I Mucolipidosis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0268226 | Type I Mucolipidosis | CTSA | 5476 | cathepsin A | P10619 |
| C0268226 | Type I Mucolipidosis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0268226 | Type I Mucolipidosis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0268226 | Type I Mucolipidosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0268228 | Neuraminidase 1 deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268228 | Neuraminidase 1 deficiency | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0268228 | Neuraminidase 1 deficiency | CTSA | 5476 | cathepsin A | P10619 |
| C0268233 | GALACTOSIALIDOSIS | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268233 | GALACTOSIALIDOSIS | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0268233 | GALACTOSIALIDOSIS | CTSA | 5476 | cathepsin A | P10619 |
| C0268233 | GALACTOSIALIDOSIS | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0268237 | Cytochrome-c Oxidase Deficiency | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0268237 | Cytochrome-c Oxidase Deficiency | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0268237 | Cytochrome-c Oxidase Deficiency | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0268237 | Cytochrome-c Oxidase Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0268237 | Cytochrome-c Oxidase Deficiency | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0268237 | Cytochrome-c Oxidase Deficiency | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0268237 | Cytochrome-c Oxidase Deficiency | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C0268237 | Cytochrome-c Oxidase Deficiency | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0268237 | Cytochrome-c Oxidase Deficiency | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
