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 | 0.740 | None | 1.000 | 0 | 2 | 2004 | 2012 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
disease | 0.700 | None | 0.974 | 27 | 25 | 1966 | 2020 | ||||||||
|
serologically defined colon cancer antigen 8 | 0.619 | 0.577 | 1.2E-11 |
|
disease | 0.640 | strong | 1.000 | 0 | 1 | 2010 | 2019 | ||||||||
|
leucine zipper transcription factor like 1 | 0.638 | 0.692 | 5.9E-02 |
|
disease | 0.640 | None | 1.000 | 0 | 2 | 2012 | 2019 | ||||||||
|
BBSome interacting protein 1 | 0.695 | 0.423 | 4.2E-03 |
|
disease | 0.610 | None | 1.000 | 0 | 1 | 2013 | 2014 | ||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
disease | 0.500 | None | 1.000 | 0 | 1 | 2008 | 2019 | ||||||||
|
ADP ribosylation factor like GTPase 6 | 0.636 | 0.462 | 1.0E-02 |
|
disease | 0.480 | strong | 1.000 | 0 | 1 | 1998 | 2013 | ||||||||
|
intraflagellar transport 27 | 0.670 | 0.462 | 5.9E-06 |
|
disease | 0.420 | None | 1.000 | 1 | 2 | 2014 | 2019 | ||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
disease | 0.400 | None | 0.982 | 29 | 24 | 1999 | 2019 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
disease | 0.400 | None | 0.976 | 24 | 20 | 1998 | 2019 | ||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
disease | 0.400 | None | 1.000 | 6 | 17 | 1997 | 2019 | ||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
disease | 0.400 | None | 0.957 | 5 | 9 | 2000 | 2019 | ||||||||
|
tetratricopeptide repeat domain 8 | 0.631 | 0.500 | 1.2E-06 |
|
disease | 0.340 | None | 1.000 | 0 | 2 | 2003 | 2011 | ||||||||
|
Bardet-Biedl syndrome 7 | 0.682 | 0.462 | 7.1E-09 |
|
disease | 0.200 | None | 0.933 | 8 | 9 | 2003 | 2020 | ||||||||
|
tripartite motif containing 32 | 0.587 | 0.769 | 1.7E-03 |
|
disease | 0.190 | None | 1.000 | 4 | 3 | 2002 | 2019 | ||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
disease | 0.180 | None | 1.000 | 8 | 13 | 2007 | 2019 | ||||||||
|
Bardet-Biedl syndrome 5 | 0.659 | 0.577 | 4.8E-06 |
|
disease | 0.180 | None | 1.000 | 4 | 7 | 1999 | 2019 | ||||||||
|
Bardet-Biedl syndrome 9 | 0.615 | 0.577 | 4.2E-17 |
|
disease | 0.180 | None | 1.000 | 2 | 16 | 2005 | 2019 | ||||||||
|
zinc finger DHHC-type containing 24 | 0.722 | 0.462 | 4.2E-04 |
|
disease | 0.100 | None | 1.000 | 25 | 17 | 2002 | 2019 | ||||||||
|
astrotactin 2 | 0.666 | 0.462 | 1.00 |
|
disease | 0.100 | None | 1.000 | 4 | 3 | 2002 | 2013 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class X | 0.780 | 0.308 | 2.4E-05 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
centrosomal protein 19 | 0.729 | 0.346 | 1.6E-02 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
trafficking protein particle complex 3 | 0.792 | 0.385 | 0.25 |
|
disease | 0.100 | None | 0 | 1 |