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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 |
|---|---|---|---|---|---|
| C0520947 | Clumsiness - motor delay | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0520947 | Clumsiness - motor delay | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0520947 | Clumsiness - motor delay | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0520947 | Clumsiness - motor delay | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0520947 | Clumsiness - motor delay | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| 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 |
| C0520680 | Sleep Apnea, Central | PSAP | 5660 | prosaposin | P07602 |
| C0520680 | Sleep Apnea, Central | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0520680 | Sleep Apnea, Central | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0520680 | Sleep Apnea, Central | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0520680 | Sleep Apnea, Central | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| 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 |
| C0520679 | Sleep Apnea, Obstructive | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0520679 | Sleep Apnea, Obstructive | IDUA | 3425 | alpha-L-iduronidase | P35475 |
