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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 |
|---|---|---|---|---|---|
| C2931835 | Hyperprolinemia type 2 | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C2931833 | Hyperinsulinemic hypoglycemia, familial, 2 | GCK | 2645 | glucokinase | P35557 |
| C2931832 | Hyperinsulinemic hypoglycemia, familial, 1 | GCK | 2645 | glucokinase | P35557 |
| C2931826 | Potassium aggravated myotonia | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C2931826 | Potassium aggravated myotonia | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C2931826 | Potassium aggravated myotonia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2931826 | Potassium aggravated myotonia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2931826 | Potassium aggravated myotonia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C2931826 | Potassium aggravated myotonia | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2931826 | Potassium aggravated myotonia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2931826 | Potassium aggravated myotonia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2931822 | Nasopharyngeal carcinoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C2931822 | Nasopharyngeal carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C2931822 | Nasopharyngeal carcinoma | GALNT7 | 51809 | polypeptide N-acetylgalactosaminyltransferase 7 | Q86SF2 |
| C2931822 | Nasopharyngeal carcinoma | GALC | 2581 | galactosylceramidase | P54803 |
| C2931822 | Nasopharyngeal carcinoma | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C2931822 | Nasopharyngeal carcinoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C2931822 | Nasopharyngeal carcinoma | ARSA | 410 | arylsulfatase A | P15289 |
| C2931822 | Nasopharyngeal carcinoma | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C2931822 | Nasopharyngeal carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C2931822 | Nasopharyngeal carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C2931822 | Nasopharyngeal carcinoma | ENO1 | 2023 | enolase 1 | P06733 |
| C2931822 | Nasopharyngeal carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C2931822 | Nasopharyngeal carcinoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C2931822 | Nasopharyngeal carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
