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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 |
|---|---|---|---|---|---|
| C1969957 | Creutzfeldt-Jakob Disease, Heidenhain Variant | PRNP | 5621 | prion protein | F7VJQ1 |
| C1969655 | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C1969621 | DEAFNESS, AUTOSOMAL RECESSIVE 63 | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C1969621 | DEAFNESS, AUTOSOMAL RECESSIVE 63 | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q96E66 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1969040 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | FKTN | 2218 | fukutin | O75072 |
| C1969024 | CARDIOMYOPATHY, DILATED, 1X | FKTN | 2218 | fukutin | O75072 |
| C1968949 | Cakut | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1968949 | Cakut | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1968949 | Cakut | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1968949 | Cakut | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1968949 | Cakut | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1968949 | Cakut | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1968949 | Cakut | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1968748 | Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1968741 | Glycogen Storage Disease IIIC | GAA | 2548 | glucosidase alpha, acid | P10253 |
