| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
disease | 0.430 | None | 1.000 | 1 | 0 | 2002 | 2013 | ||||||||
|
KIAA0586 | 0.565 | 0.731 | 5.1E-16 |
|
disease | 0.510 | None | 1.000 | 1 | 0 | 2004 | 2015 | ||||||||
|
nephrocystin 3 | 0.597 | 0.654 | 9.8E-16 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
centrosomal protein 120 | 0.564 | 0.731 | 4.1E-15 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
tectonic family member 2 | 0.578 | 0.654 | 1.8E-14 |
|
disease | 0.300 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
patatin like phospholipase domain containing 6 | 0.533 | 0.769 | 1.9E-13 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
disease | 0.410 | strong | 1.000 | 0 | 0 | 2010 | 2010 | ||||||||
|
transmembrane protein 237 | 0.612 | 0.538 | 1.9E-12 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
disease | 0.400 | strong | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
tectonic family member 3 | 0.566 | 0.615 | 4.2E-12 |
|
disease | 0.400 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
WD repeat domain 60 | 0.592 | 0.654 | 4.3E-12 |
|
disease | 0.320 | strong | 1.000 | 1 | 0 | 2013 | 2018 | ||||||||
|
CD96 molecule | 0.592 | 0.692 | 1.4E-11 |
|
disease | 0.300 | limited | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
intraflagellar transport 43 | 0.617 | 0.577 | 1.8E-11 |
|
disease | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
FRAS1 related extracellular matrix 2 | 0.566 | 0.577 | 3.6E-11 |
|
disease | 0.300 | strong | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
disease | 0.430 | strong | 1.000 | 0 | 0 | 2002 | 2016 | ||||||||
|
HYLS1 centriolar and ciliogenesis associated | 0.572 | 0.692 | 2.3E-09 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
dynein cytoplasmic 2 light intermediate chain 1 | 0.601 | 0.500 | 3.2E-09 |
|
disease | 0.400 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 7 | 0.682 | 0.462 | 7.1E-09 |
|
disease | 0.400 | strong | 0 | 0 | |||||||||||
|
limb development membrane protein 1 | 0.619 | 0.308 | 1.3E-08 |
|
disease | 0.440 | strong | 1.000 | 0 | 0 | 2001 | 2017 | ||||||||
|
TRAF3 interacting protein 1 | 0.695 | 0.423 | 1.9E-08 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
ubiquitin protein ligase E3B | 0.590 | 0.692 | 4.2E-08 |
|
disease | 0.300 | moderate | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
disease | 0.400 | strong | 0 | 0 | |||||||||||
|
transmembrane protein 231 | 0.554 | 0.692 | 3.1E-07 |
|
disease | 0.400 | None | 0 | 0 | |||||||||||
|
smoothened, frizzled class receptor | 0.489 | 0.731 | 4.3E-07 |
|
disease | 0.400 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
DEAD-box helicase 59 | 0.650 | 0.423 | 5.9E-07 |
|
disease | 0.300 | strong | 1.000 | 1 | 0 | 2013 | 2013 |