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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Q9BUK6 | misato mitochondrial distribution and morphology regulator 1 | 124 | 0.582 | 0.692 | 1.6E-09 | 0.030 | None | 1.000 | 3 | 0 | 2018 | 2020 | |||||
|
O15265 | ataxin 7 | 162 | 0.581 | 0.654 | 0.96 | 0.030 | None | 1.000 | 3 | 0 | 1999 | 2005 | |||||
|
P11308 | ETS transcription factor ERG | Transcription factor | 298 | 0.453 | 0.808 | 0.96 | 0.010 | None | 1.000 | 1 | 0 | 1984 | 1984 | ||||
|
O00555 | calcium voltage-gated channel subunit alpha1 A | Ion channel | 320 | 0.489 | 0.769 | 1.00 | 0.010 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||
|
P58418 | clarin 1 | 77 | 0.633 | 0.423 | 1.7E-08 | 0.010 | None | 1.000 | 1 | 0 | 2003 | 2003 | |||||
|
P51688 | N-sulfoglucosamine sulfohydrolase | Enzyme | 80 | 0.638 | 0.692 | 1.0E-04 | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||
|
Q96RR1 | twinkle mtDNA helicase | Enzyme | 245 | 0.516 | 0.692 | 3.2E-03 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||
|
P54098 | DNA polymerase gamma, catalytic subunit | Enzyme | 462 | 0.457 | 0.846 | 2.1E-09 | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||
|
O15305 | phosphomannomutase 2 | Enzyme | 214 | 0.535 | 0.769 | 1.4E-17 | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||
|
P32243 | orthodenticle homeobox 2 | Transcription factor | 200 | 0.514 | 0.808 | 0.92 | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||
|
Q9BZ23 | pantothenate kinase 2 | Kinase | 171 | 0.559 | 0.808 | 7.4E-07 | 0.010 | None | 1.000 | 1 | 0 | 2003 | 2003 |