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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 4 | 5 | 1992 | 2014 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.500 | strong | 0.968 | 2 | 38 | 1998 | 2019 | ||||||||
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
phenotype | 0.700 | strong | 1.000 | 0 | 38 | 1999 | 2018 | ||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
myosin IIIA | 0.780 | 0.269 | 1.8E-45 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 4 | 2011 | 2016 | ||||||||
|
RNA polymerase II subunit F | 0.722 | 0.308 | 1.3E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
POU class 3 homeobox 4 | 0.633 | 0.654 | 0.57 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 3 | 1995 | 2009 | ||||||||
|
POU class 4 homeobox 3 | 0.700 | 0.538 | 0.92 |
|
phenotype | 0.150 | None | 0.800 | 0 | 1 | 2003 | 2017 | ||||||||
|
myosin XVA | 0.722 | 0.346 | 1.3E-56 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 15 | 1998 | 2019 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2016 | 2016 | ||||||||
|
photoreceptor cilium actin regulator | 0.674 | 0.346 | 3.0E-18 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutaredoxin and cysteine rich domain containing 1 | 0.861 | 0.115 | 3.9E-11 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 1 | 2010 | 2010 | ||||||||
|
chromosome 10 open reading frame 105 | 0.861 | 0.231 | 8.4E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 8 | 1998 | 2019 | ||||||||
|
pejvakin | 0.769 | 0.115 | 3.7E-08 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 1 | 2007 | 2007 | ||||||||
|
potassium voltage-gated channel subfamily E regulatory subunit 1 | 0.588 | 0.615 | 3.4E-03 |
|
phenotype | 0.110 | None | 1.000 | 0 | 3 | 2017 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 2 | 2014 | 2018 | ||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.480 | strong | 1.000 | 0 | 4 | 1998 | 2019 |