| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.410 | None | 0.500 | 0 | 0 | 2010 | 2016 | ||||||||
|
solute carrier family 19 member 3 | 0.610 | 0.692 | 0.10 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
platelet derived growth factor receptor beta | 0.416 | 0.846 | 0.90 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2014 | 2015 | ||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2016 | 2016 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2003 | 2003 | ||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
AU RNA binding methylglutaconyl-CoA hydratase | 0.686 | 0.346 | 8.0E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
ribonuclease H2 subunit C | 0.590 | 0.731 | 5.5E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
ribonuclease H2 subunit B | 0.595 | 0.615 | 3.3E-09 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
myogenesis regulating glycosidase (putative) | 0.805 | 0.269 | 1.1E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 E | 0.650 | 0.577 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
succinate dehydrogenase complex assembly factor 1 | 0.656 | 0.462 | 8.7E-02 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
pyruvate dehydrogenase complex component X | 0.595 | 0.692 | 9.7E-05 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
ribonuclease H2 subunit A | 0.592 | 0.692 | 4.2E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
hypoxanthine phosphoribosyltransferase 1 | 0.500 | 0.808 | 0.94 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
polyribonucleotide nucleotidyltransferase 1 | 0.653 | 0.462 | 4.0E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
methionine adenosyltransferase 1A | 0.582 | 0.577 | 8.1E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
charged multivesicular body protein 2B | 0.543 | 0.731 | 4.6E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 0.547 | 0.769 | 6.5E-13 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
thiamin pyrophosphokinase 1 | 0.792 | 0.269 | 9.1E-02 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2017 | 2017 |