| Gene | UniProt | Gene Full Name | Protein Class | N. diseases g | DSI g | DPI g | pLI | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Q01453 | peripheral myelin protein 22 | Cellular structure | 341 | 0.471 | 0.885 | 0.91 | 0.010 | None | 1.000 | 1 | 1 | 2011 | 2011 | ||||
|
P41250 | glycyl-tRNA synthetase 1 | Enzyme | 73 | 0.623 | 0.500 | 0.31 | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||
|
Q9C040 | tripartite motif containing 2 | Enzyme | 44 | 0.686 | 0.538 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||
|
Q12756 | kinesin family member 1A | Cellular structure | 187 | 0.559 | 0.692 | 1.00 | 0.010 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||
|
Q9NVI7 | ATPase family AAA domain containing 3A | Enzyme | 81 | 0.628 | 0.692 | 4.1E-09 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||
|
Q7Z333 | senataxin | Enzyme | 133 | 0.570 | 0.731 | 0.95 | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||
|
Q96RR1 | twinkle mtDNA helicase | Enzyme | 245 | 0.516 | 0.692 | 3.2E-03 | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||
|
Q9HDC5 | junctophilin 1 | 29 | 0.705 | 0.269 | 0.77 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | |||||
|
P49917 | DNA ligase 4 | 293 | 0.478 | 0.846 | 4.2E-06 | 0.010 | None | 1.000 | 1 | 0 | 2020 | 2020 |