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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 |
|---|---|---|---|---|---|
| C0520680 | Sleep Apnea, Central | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0520680 | Sleep Apnea, Central | ANXA5 | 308 | annexin A5 | P08758 |
| C0520680 | Sleep Apnea, Central | AGRN | 375790 | agrin | O00468 |
| C0520680 | Sleep Apnea, Central | CAT | 847 | catalase | P04040 |
| C0520680 | Sleep Apnea, Central | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0520680 | Sleep Apnea, Central | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0520680 | Sleep Apnea, Central | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0520680 | Sleep Apnea, Central | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0520680 | Sleep Apnea, Central | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0520739 | Hereditary pyropoikilocytosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0520739 | Hereditary pyropoikilocytosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0520739 | Hereditary pyropoikilocytosis | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0520739 | Hereditary pyropoikilocytosis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0520947 | Clumsiness - motor delay | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0520947 | Clumsiness - motor delay | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0520947 | Clumsiness - motor delay | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0520947 | Clumsiness - motor delay | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0520947 | Clumsiness - motor delay | FKTN | 2218 | fukutin | O75072 |
| C0520947 | Clumsiness - motor delay | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0520947 | Clumsiness - motor delay | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0520947 | Clumsiness - motor delay | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0520947 | Clumsiness - motor delay | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0520947 | Clumsiness - motor delay | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0520947 | Clumsiness - motor delay | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0520947 | Clumsiness - motor delay | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
