| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
zinc finger protein 142 | 0.861 | 0.192 | 4.8E-16 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
thiamin pyrophosphokinase 1 | 0.792 | 0.269 | 9.1E-02 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
myogenesis regulating glycosidase (putative) | 0.805 | 0.269 | 1.1E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
AU RNA binding methylglutaconyl-CoA hydratase | 0.686 | 0.346 | 8.0E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
major histocompatibility complex, class I-related | 0.716 | 0.346 | 4.9E-18 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
serine active site containing 1 | 0.686 | 0.385 | 3.9E-06 |
|
phenotype | 0.620 | None | 1.000 | 3 | 0 | 2006 | 2018 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
phenotype | 0.430 | None | 1.000 | 2 | 0 | 1995 | 2015 | ||||||||
|
metabolism of cobalamin associated D | 0.751 | 0.385 | 2.1E-05 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.420 | strong | 1.000 | 2 | 0 | 2012 | 2015 | ||||||||
|
GTP binding protein 2 | 0.736 | 0.423 | 0.32 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
THAP domain containing 1 | 0.644 | 0.462 | 0.80 |
|
phenotype | 0.600 | None | 0.964 | 1 | 0 | 1999 | 2019 | ||||||||
|
succinate dehydrogenase complex assembly factor 1 | 0.656 | 0.462 | 8.7E-02 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
L-2-hydroxyglutarate dehydrogenase | 0.653 | 0.462 | 4.2E-05 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
polyribonucleotide nucleotidyltransferase 1 | 0.653 | 0.462 | 4.0E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
FAD dependent oxidoreductase domain containing 1 | 0.633 | 0.462 | 2.0E-16 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
glutamyl-tRNA synthetase 2, mitochondrial | 0.666 | 0.538 | 1.1E-08 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
ATPase cation transporting 13A2 | 0.566 | 0.577 | 9.0E-09 |
|
phenotype | 0.440 | strong | 0.833 | 2 | 0 | 2010 | 2019 | ||||||||
|
adenylate cyclase 5 | 0.617 | 0.577 | 1.00 |
|
phenotype | 0.470 | None | 1.000 | 1 | 0 | 2014 | 2017 | ||||||||
|
VPS37A subunit of ESCRT-I | 0.656 | 0.577 | 6.8E-04 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
methionine adenosyltransferase 1A | 0.582 | 0.577 | 8.1E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
solute carrier family 20 member 2 | 0.638 | 0.577 | 0.97 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2014 | 2014 |