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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.430 | None | 1.000 | 76 | 11 | 2001 | 2019 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.500 | None | 1.000 | 23 | 16 | 1984 | 2019 | ||||||||
|
sodium voltage-gated channel beta subunit 1 | 0.575 | 0.538 | 0.10 |
|
phenotype | 0.130 | None | 0.950 | 17 | 1 | 1998 | 2016 | ||||||||
|
cholinergic receptor nicotinic alpha 4 subunit | 0.492 | 0.808 | 8.5E-05 |
|
phenotype | 0.440 | None | 1.000 | 9 | 1 | 1999 | 2019 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.140 | None | 1.000 | 8 | 6 | 2006 | 2018 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.500 | None | 0.923 | 6 | 6 | 2000 | 2019 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 5 | 11 | 1992 | 2014 | ||||||||
|
tripeptidyl peptidase 1 | 0.551 | 0.808 | 6.3E-07 |
|
phenotype | 0.130 | None | 1.000 | 4 | 10 | 1998 | 2013 | ||||||||
|
major facilitator superfamily domain containing 8 | 0.682 | 0.231 | 2.5E-12 |
|
phenotype | 0.110 | None | 1.000 | 4 | 3 | 2009 | 2019 | ||||||||
|
tRNA | 0.729 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 1993 | 2018 | |||||||||
|
chromodomain helicase DNA binding protein 8 | 0.656 | 0.577 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 4 | 1 | 2012 | 2020 | ||||||||
|
DEP domain containing 5, GATOR1 subcomplex subunit | 0.631 | 0.538 | 0.12 |
|
phenotype | 0.150 | None | 1.000 | 4 | 4 | 2013 | 2020 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.140 | None | 1.000 | 3 | 2 | 2012 | 2018 | ||||||||
|
platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 0.504 | 0.769 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 3 | 1 | 1999 | 2003 | ||||||||
|
potassium sodium-activated channel subfamily T member 1 | 0.610 | 0.308 | 2.8E-05 |
|
phenotype | 0.140 | None | 1.000 | 3 | 1 | 2015 | 2019 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.700 | strong | 1.000 | 3 | 4 | 1998 | 2018 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.140 | None | 0.857 | 3 | 1 | 2006 | 2019 | ||||||||
|
EMC1 antisense RNA 1 | 0.792 | 0.385 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2016 | 2017 | |||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 2 | 4 | 2017 | 2017 | ||||||||
|
ER membrane protein complex subunit 1 | 0.700 | 0.462 | 6.7E-26 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2016 | 2017 | ||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
potassium voltage-gated channel subfamily B member 1 | 0.650 | 0.462 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 2 | 2 | 2017 | 2017 | ||||||||
|
CLN6 transmembrane ER protein | 0.670 | 0.231 | 1.0E-04 |
|
phenotype | 0.110 | None | 1.000 | 2 | 2 | 2002 | 2008 | ||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.180 | None | 1.000 | 2 | 8 | 2014 | 2019 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2012 | 2015 |