| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
disease | 0.100 | None | 0 | 3 | |||||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
arginyl-tRNA synthetase 2, mitochondrial | 0.663 | 0.462 | 7.7E-14 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ATP binding cassette subfamily D member 1 | 0.563 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 1998 | 1998 | ||||||||
|
BICD cargo adaptor 2 | 0.615 | 0.731 | 0.98 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 C | 0.510 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2007 | 2007 | ||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type VI alpha 1 chain | 0.587 | 0.731 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2011 | 2011 | ||||||||
|
cullin 7 | 0.633 | 0.500 | 2.6E-21 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
DCC netrin 1 receptor | 0.471 | 0.808 | 0.99 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
dynein axonemal heavy chain 11 | 0.587 | 0.692 | 2.5E-58 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
elongation factor like GTPase 1 | 0.638 | 0.577 | 5.1E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
EMC1 antisense RNA 1 | 0.792 | 0.385 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2016 | 2017 | |||||||||
|
endothelin converting enzyme like 1 | 0.638 | 0.308 | 4.8E-13 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ER membrane protein complex subunit 1 | 0.700 | 0.462 | 6.7E-26 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2016 | 2017 | ||||||||
|
family with sequence similarity 120A opposite strand | 0.861 | 0.154 | 2.2E-02 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 10 | 2014 | 2014 | ||||||||
|
fibroblast growth factor 14 | 0.619 | 0.692 | 0.91 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
fukutin related protein | 0.513 | 0.731 | 9.8E-06 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
gigaxonin | 0.674 | 0.500 | 2.5E-02 |
|
disease | 0.100 | None | 0 | 1 |