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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 |
|---|---|---|---|---|---|
| C0236642 | Pick Disease of the Brain | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0236642 | Pick Disease of the Brain | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0236642 | Pick Disease of the Brain | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0236642 | Pick Disease of the Brain | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0236642 | Pick Disease of the Brain | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0236642 | Pick Disease of the Brain | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0236642 | Pick Disease of the Brain | PRNP | 5621 | prion protein | P04156 |
| C0236642 | Pick Disease of the Brain | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0236642 | Pick Disease of the Brain | PRNP | 5621 | prion protein | F7VJQ1 |
| C0010701 | Phyllodes Tumor | DCN | 1634 | decorin | P07585 |
| C0010701 | Phyllodes Tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0010701 | Phyllodes Tumor | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0010701 | Phyllodes Tumor | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0010701 | Phyllodes Tumor | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0010701 | Phyllodes Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0010701 | Phyllodes Tumor | FASN | 2194 | fatty acid synthase | P49327 |
| C0010701 | Phyllodes Tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0010701 | Phyllodes Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0010701 | Phyllodes Tumor | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0271007 | Phthisis bulbi | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1527358 | Phototoxicity | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1527358 | Phototoxicity | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1527358 | Phototoxicity | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1527358 | Phototoxicity | ANXA5 | 308 | annexin A5 | P08758 |
| C1527358 | Phototoxicity | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
