| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Ts translation elongation factor, mitochondrial | 0.736 | 0.423 | 1.9E-09 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2011 | 2011 | ||||||||
|
solute carrier family 35 member A1 | 0.601 | 0.654 | 0.68 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
TBC1 domain family member 20 | 0.621 | 0.500 | 0.93 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 1991 | 1991 | ||||||||
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
zinc finger protein 292 | 0.695 | 0.423 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2008 | 2008 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class P | 0.633 | 0.462 | 1.9E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
tubulin alpha 8 | 0.691 | 0.385 | 3.6E-05 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
transmembrane protein 70 | 0.636 | 0.654 | 2.9E-02 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2014 | 2014 | ||||||||
|
fukutin related protein | 0.513 | 0.731 | 9.8E-06 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2001 | 2001 | ||||||||
|
transient receptor potential cation channel subfamily M member 3 | 0.663 | 0.769 | 5.7E-07 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2017 | 2019 | ||||||||
|
caseinolytic mitochondrial matrix peptidase chaperone subunit B | 0.631 | 0.654 | 5.0E-04 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
dolichyl-phosphate mannosyltransferase subunit 2, regulatory | 0.666 | 0.500 | 0.32 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2016 | 2016 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.700 | strong | 1.000 | 3 | 4 | 1998 | 2018 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 2 | 2008 | 2016 | ||||||||
|
F-box and leucine rich repeat protein 4 | 0.695 | 0.423 | 1.1E-08 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 1 | 2016 | 2017 | ||||||||
|
neurobeachin | 0.760 | 0.538 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 2 | 2013 | 2018 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 8 | 2015 | 2016 | ||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
PET100 cytochrome c oxidase chaperone | 0.650 | 0.577 | 3.6E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
APC regulator of WNT signaling pathway 2 | 0.582 | 0.654 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2007 | 2007 |