| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
F-box and leucine rich repeat protein 3 | 0.736 | 0.462 | 0.98 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
radial spoke head component 4A | 0.666 | 0.538 | 7.6E-11 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
pseudouridine synthase 7 | 0.769 | 0.308 | 1.3E-09 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
eukaryotic translation initiation factor 4A3 | 0.608 | 0.500 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
AMMECR nuclear protein 1 | 0.659 | 0.692 | 0.82 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 3 | 2017 | 2017 | ||||||||
|
insulin like growth factor binding protein acid labile subunit | 0.511 | 0.846 | 5.4E-11 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
lysine demethylase 3B | 0.686 | 0.500 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
solute carrier family 2 member 2 | 0.572 | 0.692 | 3.4E-08 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
solute carrier family 10 member 7 | 0.711 | 0.269 | 2.0E-05 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
IQ motif and Sec7 domain ArfGEF 1 | 0.736 | 0.346 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 7 | 14 | 2001 | 2008 | ||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2006 | 2011 | ||||||||
|
cathepsin A | 0.619 | 0.731 | 5.9E-09 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 1996 | 2014 | ||||||||
|
mitochondrial methionyl-tRNA formyltransferase | 0.595 | 0.808 | 1.5E-07 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2011 | 2014 | ||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2010 | 2011 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2012 | 2015 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2007 | 2007 | ||||||||
|
SHOC2 leucine rich repeat scaffold protein | 0.593 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2009 | 2012 | ||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 10 | 2015 | 2015 | ||||||||
|
obscurin like cytoskeletal adaptor 1 | 0.686 | 0.308 | 1.0E-25 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
3-hydroxyanthranilate 3,4-dioxygenase | 0.644 | 0.538 | 1.1E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
ABL proto-oncogene 1, non-receptor tyrosine kinase | 0.432 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
NIPBL cohesin loading factor | 0.521 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
S-phase cyclin A associated protein in the ER | 0.653 | 0.500 | 8.8E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 |