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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0014078 | Venezuelan equine encephalomyelitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014070 | Encephalomyelitis | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0014070 | Encephalomyelitis | FUT7 | 2529 | fucosyltransferase 7 | Q11130 |
| C0014070 | Encephalomyelitis | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0014070 | Encephalomyelitis | ARSA | 410 | arylsulfatase A | P15289 |
| C0014070 | Encephalomyelitis | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0014070 | Encephalomyelitis | HPSE | 10855 | heparanase | Q9Y251 |
| C0014070 | Encephalomyelitis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0014070 | Encephalomyelitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0014070 | Encephalomyelitis | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C0014070 | Encephalomyelitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014070 | Encephalomyelitis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0014070 | Encephalomyelitis | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0014070 | Encephalomyelitis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0014070 | Encephalomyelitis | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0014070 | Encephalomyelitis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0014070 | Encephalomyelitis | LGALS8 | 3964 | galectin 8 | O00214 |
