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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Q9Y276 | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 172 | 0.534 | 0.808 | 4.7E-13 | 0.750 | definitive | 1.000 | 12 | 10 | 1998 | 2017 | |||||
|
O14656 | torsin family 1 member A | Chaperone | 115 | 0.566 | 0.731 | 5.1E-04 | 0.100 | None | 0.952 | 21 | 0 | 1999 | 2011 | ||||
|
Q9NVV9 | THAP domain containing 1 | 51 | 0.644 | 0.462 | 0.80 | 0.050 | None | 1.000 | 5 | 0 | 1999 | 2010 | |||||
|
dystonia 13, torsion | 7 | 0.821 | 0.231 | 0.040 | None | 1.000 | 4 | 0 | 2001 | 2004 | |||||||
|
P38405 | G protein subunit alpha L | Enzyme modulator | 41 | 0.674 | 0.308 | 1.00 | 0.020 | None | 1.000 | 2 | 0 | 2013 | 2014 | ||||
|
dystonia 7, torsion (autosomal dominant) | 11 | 0.805 | 0.269 | 0.020 | None | 1.000 | 2 | 0 | 1999 | 2001 | |||||||
|
P78364 | polyhomeotic homolog 1 | Nucleic acid binding | 57 | 0.644 | 0.692 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||
|
Q8N490 | PNKD metallo-beta-lactamase domain containing | 96 | 0.615 | 0.615 | 4.1E-08 | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | |||||
|
Q9H6Z9 | egl-9 family hypoxia inducible factor 3 | 97 | 0.575 | 0.654 | 9.5E-03 | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | |||||
|
Q96KS0 | egl-9 family hypoxia inducible factor 2 | 68 | 0.604 | 0.731 | 0.72 | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | |||||
|
Q9BYT9 | anoctamin 3 | 37 | 0.716 | 0.385 | 1.2E-17 | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | |||||
|
P21675 | TATA-box binding protein associated factor 1 | Kinase | 139 | 0.581 | 0.808 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||
|
P04818 | thymidylate synthetase | Enzyme | 406 | 0.425 | 0.846 | 0.72 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||
|
RAB4B-EGLN2 readthrough (NMD candidate) | 51 | 0.641 | 0.654 | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 |