| 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. | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
P54252 | ataxin 3 | Enzyme | 207 | 0.521 | 0.808 | 0.11 | 0.020 | None | 1.000 | 2 | 0 | 2004 | 2015 | ||||
|
Q96RR1 | twinkle mtDNA helicase | Enzyme | 245 | 0.516 | 0.692 | 3.2E-03 | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2008 | ||||
|
O95622 | adenylate cyclase 5 | 103 | 0.617 | 0.577 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||
|
P49638 | alpha tocopherol transfer protein | Transporter | 147 | 0.612 | 0.577 | 1.4E-03 | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||
|
P43699 | NK2 homeobox 1 | Transcription factor | 319 | 0.457 | 0.808 | 0.36 | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||
|
P0DMR3 | ATXN8 opposite strand lncRNA | 91 | 0.650 | 0.423 | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||
|
Q99700 | ataxin 2 | Nucleic acid binding | 341 | 0.482 | 0.808 | 0.85 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||
|
Q7LBR1 | charged multivesicular body protein 1B | Transporter | 24 | 0.736 | 0.462 | 0.73 | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||
|
F7VJQ1 P04156 | prion protein | 426 | 0.445 | 0.923 | 6.3E-04 | 0.010 | None | 1.000 | 1 | 1 | 1999 | 1999 | |||||
|
O15305 | phosphomannomutase 2 | Enzyme | 214 | 0.535 | 0.769 | 1.4E-17 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||
|
Q16720 | ATPase plasma membrane Ca2+ transporting 3 | Transporter | 72 | 0.631 | 0.692 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||
|
P51608 | methyl-CpG binding protein 2 | Epigenetic regulator | 664 | 0.414 | 0.846 | 0.89 | 0.010 | None | 1.000 | 1 | 2 | 2003 | 2003 | ||||
|
Q7Z333 | senataxin | Enzyme | 133 | 0.570 | 0.731 | 0.95 | 0.010 | None | < 0.001 | 1 | 0 | 2009 | 2009 | ||||
|
P20711 | dopa decarboxylase | 164 | 0.535 | 0.769 | 3.8E-08 | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||
|
O00555 | calcium voltage-gated channel subunit alpha1 A | Ion channel | 320 | 0.489 | 0.769 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 |