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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 |
|---|---|---|---|---|---|
| C0005859 | Bloom Syndrome | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0005859 | Bloom Syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0005859 | Bloom Syndrome | CAT | 847 | catalase | P04040 |
| C0005859 | Bloom Syndrome | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0005859 | Bloom Syndrome | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0005940 | Bone Diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0005940 | Bone Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0005940 | Bone Diseases | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0005940 | Bone Diseases | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0005940 | Bone Diseases | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0005940 | Bone Diseases | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0005940 | Bone Diseases | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0005940 | Bone Diseases | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0005940 | Bone Diseases | SDC1 | 6382 | syndecan 1 | P18827 |
| C0005940 | Bone Diseases | KL | 9365 | klotho | Q9UEF7 |
| C0005940 | Bone Diseases | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0005940 | Bone Diseases | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0005940 | Bone Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0005940 | Bone Diseases | ACAN | 176 | aggrecan | P16112 |
| C0005940 | Bone Diseases | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0005940 | Bone Diseases | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0005940 | Bone Diseases | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0005940 | Bone Diseases | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0005940 | Bone Diseases | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0005940 | Bone Diseases | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
