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 | 5 | 11 | 1992 | 2014 | ||||||||
|
tRNA | 0.729 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 1993 | 2018 | |||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
ER membrane protein complex subunit 1 | 0.700 | 0.462 | 6.7E-26 |
|
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 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2012 | 2015 | ||||||||
|
EMC1 antisense RNA 1 | 0.792 | 0.385 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2016 | 2017 | |||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
CLN5 intracellular trafficking protein | 0.705 | 0.269 | 1.7E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
ALG13 UDP-N-acetylglucosaminyltransferase subunit | 0.631 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
ferric chelate reductase 1 like | 0.666 | 0.231 | 1.5E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
ATR interacting protein | 0.666 | 0.692 | 2.0E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
F-box and leucine rich repeat protein 3 | 0.736 | 0.462 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
carnitine O-acetyltransferase | 0.656 | 0.577 | 9.5E-12 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2020 | 2020 | ||||||||
|
sodium leak channel, non-selective | 0.587 | 0.615 | 8.5E-14 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
enoyl-CoA hydratase, short chain 1 | 0.601 | 0.654 | 8.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
SRY-box transcription factor 4 | 0.489 | 0.808 | 0.93 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
thrombospondin type laminin G domain and EAR repeats | 0.736 | 0.385 | 2.4E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
calcium/calmodulin dependent protein kinase II beta | 0.626 | 0.538 | 0.74 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
mitochondrial intermediate peptidase | 0.666 | 0.615 | 1.6E-15 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
calcium/calmodulin dependent protein kinase II alpha | 0.612 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
syntaxin 7 | 0.821 | 0.231 | 5.0E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2006 | 2006 | |||||||||
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 0.537 | 0.538 | 1.9E-20 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 |