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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 |
|---|---|---|---|---|---|
| C2931689 | Dystrophia myotonica 2 | FASN | 2194 | fatty acid synthase | P49327 |
| C2931689 | Dystrophia myotonica 2 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C2931779 | Congenital defect of skull and scalp | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C2931783 | Amelogenesis imperfecta nephrocalcinosis | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| 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 |
