| Gene | Gene Full Name | DSI g | DPI g | pLI | Disease | Type | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
PET100 cytochrome c oxidase chaperone | 0.650 | 0.577 | 3.6E-04 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
GTP binding protein 2 | 0.736 | 0.423 | 0.32 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
transmembrane protein 70 | 0.636 | 0.654 | 2.9E-02 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
phenotype | 0.600 | strong | 1.000 | 1 | 0 | 2005 | 2014 | ||||||||
|
caseinolytic mitochondrial matrix peptidase chaperone subunit B | 0.631 | 0.654 | 5.0E-04 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
GM2 ganglioside activator | 0.678 | 0.692 | 3.1E-02 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
folate receptor alpha | 0.522 | 0.885 | 0.13 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
adaptor related protein complex 4 subunit sigma 1 | 0.674 | 0.385 | 1.7E-06 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
zinc finger MIZ-type containing 1 | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
kaptin, actin binding protein | 0.769 | 0.192 | 1.1E-05 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2008 | 2016 | ||||||||
|
katanin regulatory subunit B1 | 0.674 | 0.346 | 1.4E-05 |
|
phenotype | 0.310 | moderate | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2015 | 2016 | ||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
heterogeneous nuclear ribonucleoprotein R | 0.722 | 0.308 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
adaptor related protein complex 3 subunit delta 1 | 0.678 | 0.385 | 0.99 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
dolichyl-phosphate mannosyltransferase subunit 2, regulatory | 0.666 | 0.500 | 0.32 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
tRNA splicing endonuclease subunit 15 | 0.769 | 0.115 | 0.28 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
Rho related BTB domain containing 2 | 0.631 | 0.615 | 1.3E-02 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
lysyl-tRNA synthetase 1 | 0.636 | 0.577 | 4.2E-09 |
|
phenotype | 0.300 | strong | 1.000 | 2 | 0 | 2015 | 2017 | ||||||||
|
phosphatase and actin regulator 1 | 0.663 | 0.423 | 0.64 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
lanosterol synthase | 0.606 | 0.654 | 1.8E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
solute carrier family 35 member A1 | 0.601 | 0.654 | 0.68 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 |