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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
P27708 | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Enzyme | 249 | 0.482 | 0.846 | 1.00 | 0.030 | None | 1.000 | 3 | 0 | 2016 | 2019 | ||||
|
P17661 | desmin | 330 | 0.460 | 0.846 | 8.8E-03 | 0.010 | None | 1.000 | 1 | 1 | 2008 | 2008 | |||||
|
P11532 | dystrophin | 484 | 0.423 | 0.923 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | |||||
|
Q53HV7 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | 1034 | 0.322 | 0.923 | 4.5E-04 | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||
|
P46976 | glycogenin 1 | Enzyme | 52 | 0.722 | 0.308 | 4.8E-12 | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||
|
P16219 | acyl-CoA dehydrogenase short chain | 56 | 0.663 | 0.538 | 2.8E-06 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | |||||
|
Q92629 | sarcoglycan delta | Cellular structure | 68 | 0.641 | 0.615 | 2.1E-03 | 0.010 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||
|
P02766 | transthyretin | Transporter | 461 | 0.423 | 0.885 | 0.52 | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||
|
O76090 | bestrophin 1 | Ion channel | 292 | 0.465 | 0.885 | 1.8E-12 | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 |