| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X-prolyl aminopeptidase 3 | 0.769 | 0.269 | 1.9E-08 |
|
disease | 0.320 | limited | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
left-right determination factor 2 | 0.736 | 0.231 | 2.9E-04 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
centrosomal protein 164 | 0.711 | 0.462 | 4.8E-27 |
|
disease | 0.320 | strong | 1.000 | 0 | 0 | 2012 | 2014 | ||||||||
|
retinal degeneration 3, GUCY2D regulator | 0.700 | 0.308 | 2.6E-05 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 7 | 0.682 | 0.462 | 7.1E-09 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
dynein axonemal assembly factor 2 | 0.678 | 0.538 | 6.5E-09 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
lebercilin LCA5 | 0.674 | 0.269 | 4.1E-05 |
|
disease | 0.320 | limited | 1.000 | 0 | 0 | 2009 | 2018 | ||||||||
|
nephrocystin 4 | 0.674 | 0.423 | 1.7E-29 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
photoreceptor cilium actin regulator | 0.674 | 0.346 | 3.0E-18 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
leucine rich repeat containing 56 | 0.670 | 0.500 | 7.7E-10 |
|
disease | 0.300 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
whirlin | 0.670 | 0.385 | 7.7E-05 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
cysteine rich with EGF like domains 1 | 0.670 | 0.269 | 1.3E-11 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
coiled-coil domain containing 28B | 0.659 | 0.538 | 3.2E-09 |
|
disease | 0.310 | limited | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
TOP1 binding arginine/serine rich protein | 0.659 | 0.538 | 1.00 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
USH1 protein network component sans | 0.659 | 0.346 | 3.7E-05 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 5 | 0.659 | 0.577 | 4.8E-06 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
potassium inwardly rectifying channel subfamily J member 13 | 0.659 | 0.308 | 1.4E-02 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
transmembrane protein 138 | 0.656 | 0.385 | 4.7E-02 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
coiled-coil domain containing 40 | 0.656 | 0.538 | 3.8E-17 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
spermatogenesis associated 7 | 0.656 | 0.385 | 5.2E-13 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
retinol dehydrogenase 12 | 0.650 | 0.308 | 2.3E-09 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
ataxin 10 | 0.650 | 0.385 | 3.5E-04 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
aryl hydrocarbon receptor interacting protein like 1 | 0.644 | 0.346 | 1.2E-05 |
|
disease | 0.300 | limited | 0 | 0 |