| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
phenotype | 0.100 | None | 1.000 | 34 | 2 | 1967 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 20 | 3 | 1999 | 2016 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
phenotype | 0.100 | None | 1.000 | 36 | 2 | 1989 | 2018 | ||||||||
|
GLI family zinc finger 2 | 0.446 | 0.846 | 0.97 |
|
phenotype | 0.100 | None | 1.000 | 5 | 2 | 2003 | 2013 | ||||||||
|
RAD51 recombinase | 0.447 | 0.846 | 2.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1992 | 2017 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NK2 homeobox 1 | 0.457 | 0.808 | 0.36 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1995 | 2017 | ||||||||
|
fms related receptor tyrosine kinase 4 | 0.457 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1998 | 2013 | ||||||||
|
transient receptor potential cation channel subfamily V member 4 | 0.457 | 0.808 | 2.2E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 3 | 1963 | 2016 | ||||||||
|
survival of motor neuron 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
euchromatic histone lysine methyltransferase 1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 8 | 1 | 2005 | 2018 | ||||||||
|
desmin | 0.460 | 0.846 | 8.8E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transcription factor 4 | 0.464 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 23 | 5 | 2007 | 2017 | ||||||||
|
lysine methyltransferase 2D | 0.465 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 25 | 2 | 1988 | 2017 | ||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 1991 | 2014 | ||||||||
|
peripheral myelin protein 22 | 0.471 | 0.885 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 20 | 1 | 1992 | 2015 | ||||||||
|
zinc finger E-box binding homeobox 2 | 0.471 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 8 | 2 | 2005 | 2017 | ||||||||
|
solute carrier family 6 member 8 | 0.476 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 11 | 3 | 2000 | 2017 | ||||||||
|
phospholipase A2 group VI | 0.476 | 0.846 | 2.5E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
retinoic acid receptor beta | 0.478 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2007 | 2016 | ||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 1.000 | 7 | 4 | 2004 | 2015 | ||||||||
|
solute carrier family 52 member 2 | 0.483 | 0.808 | 2.5E-03 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2012 | 2016 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 3 | 1984 | 2015 |