| 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. | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Q96G97 | BSCL2 lipid droplet biogenesis associated, seipin | 221 | 0.545 | 0.692 | 1.1E-09 | 0.800 | None | 1.000 | 21 | 3 | 2001 | 2019 | |||||
|
HNRNPUL2-BSCL2 readthrough (NMD candidate) | 10 | 0.780 | 0.192 | 0.100 | None | 1.000 | 3 | 3 | 2007 | 2011 | |||||||
|
P41250 | glycyl-tRNA synthetase 1 | Enzyme | 73 | 0.623 | 0.500 | 0.31 | 0.020 | None | 1.000 | 2 | 0 | 2004 | 2007 | ||||
|
O95831 | apoptosis inducing factor mitochondria associated 1 | Enzyme | 205 | 0.527 | 0.769 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||
|
Q58FF3 | heat shock protein 90 beta family member 2, pseudogene | Chaperone | 110 | 0.558 | 0.846 | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | |||||
|
Q9UBP0 | spastin | Cellular structure | 138 | 0.579 | 0.577 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||
|
P04792 | heat shock protein family B (small) member 1 | 395 | 0.436 | 0.808 | 2.8E-07 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | |||||
|
spastic paraplegia 38 (autosomal dominant, Silver syndrome) | 3 | 0.890 | 0.115 | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | |||||||
|
Q9UJY1 | heat shock protein family B (small) member 8 | 122 | 0.570 | 0.577 | 4.3E-02 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | |||||
|
P22102 | phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase | Enzyme | 48 | 0.631 | 0.615 | 2.8E-04 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||
|
O60333 | kinesin family member 1B | Cellular structure | 213 | 0.516 | 0.808 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||
|
Q15013 | MAD2L1 binding protein | 61 | 0.623 | 0.577 | 1.4E-08 | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 |