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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 |
|---|---|---|---|---|---|
| C0014070 | Encephalomyelitis | FASN | 2194 | fatty acid synthase | P49327 |
| C0014070 | Encephalomyelitis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0014070 | Encephalomyelitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0014070 | Encephalomyelitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0014070 | Encephalomyelitis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0014070 | Encephalomyelitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0014070 | Encephalomyelitis | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0014070 | Encephalomyelitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0014070 | Encephalomyelitis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0014078 | Venezuelan equine encephalomyelitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014084 | Enchondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0014084 | Enchondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0014084 | Enchondromatosis | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0014084 | Enchondromatosis | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0014116 | Endocardial Cushion Defects | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C0014116 | Endocardial Cushion Defects | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0014116 | Endocardial Cushion Defects | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0014116 | Endocardial Cushion Defects | ARSD | 414 | arylsulfatase D | P51689 |
| C0014116 | Endocardial Cushion Defects | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0014116 | Endocardial Cushion Defects | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0014116 | Endocardial Cushion Defects | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0014118 | Endocarditis | CS | 1431 | citrate synthase | O75390 |
| C0014118 | Endocarditis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014118 | Endocarditis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0014118 | Endocarditis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
