| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
heterogeneous nuclear ribonucleoprotein K | 0.539 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 30 | 1 | 1996 | 2018 | ||||||||
|
potassium voltage-gated channel subfamily A member 2 | 0.612 | 0.577 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 28 | 1 | 1991 | 2017 | ||||||||
|
SET domain containing 5 | 0.560 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 26 | 1 | 1995 | 2018 | ||||||||
|
BAF chromatin remodeling complex subunit BCL11A | 0.541 | 0.769 | 0.97 |
|
phenotype | 0.100 | None | 1.000 | 25 | 1 | 2000 | 2018 | ||||||||
|
cullin 3 | 0.592 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 25 | 1 | 1986 | 2016 | ||||||||
|
peptidyl-tRNA hydrolase 2 | 0.641 | 0.577 | 6.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 23 | 1 | 1976 | 2017 | ||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1998 | 2017 | ||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1992 | 2017 | ||||||||
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1993 | 2016 | ||||||||
|
spastin | 0.579 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1999 | 2016 | ||||||||
|
peripheral myelin protein 22 | 0.471 | 0.885 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 20 | 1 | 1992 | 2015 | ||||||||
|
BAF chromatin remodeling complex subunit BCL11B | 0.568 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 2003 | 2016 | ||||||||
|
notch receptor 1 | 0.369 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1999 | 2019 | ||||||||
|
heterogeneous nuclear ribonucleoprotein R | 0.722 | 0.308 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 1 | 1998 | 2014 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 1 | 1993 | 2015 | ||||||||
|
protocadherin 19 | 0.599 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 1 | 2008 | 2017 | ||||||||
|
solute carrier family 16 member 2 | 0.592 | 0.577 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 15 | 1 | 1990 | 2016 | ||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 15 | 1 | 2011 | 2018 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
phenotype | 0.100 | None | 1.000 | 15 | 1 | 2006 | 2016 | ||||||||
|
sprouty related EVH1 domain containing 1 | 0.644 | 0.577 | 0.97 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1988 | 2013 | ||||||||
|
enoyl-CoA hydratase, short chain 1 | 0.601 | 0.654 | 8.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 2014 | 2018 | ||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1988 | 2017 | ||||||||
|
CCR4-NOT transcription complex subunit 3 | 0.686 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 2000 | 2017 | ||||||||
|
nucleotide binding protein like | 0.670 | 0.423 | 1.1E-05 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1999 | 2013 | ||||||||
|
galactosamine (N-acetyl)-6-sulfatase | 0.560 | 0.808 | 3.0E-10 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1995 | 2017 |