| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
peroxisome proliferator activated receptor gamma | 0.358 | 0.885 | 2.9E-02 |
|
disease | 1.000 | None | 0.960 | 0 | 0 | 1997 | 2020 | ||||||||
|
melanocortin 4 receptor | 0.535 | 0.692 | 9.2E-04 |
|
disease | 1.000 | None | 0.961 | 0 | 0 | 1997 | 2020 | ||||||||
|
proopiomelanocortin | 0.356 | 0.846 | 1.2E-04 |
|
disease | 0.900 | strong | 0.959 | 0 | 0 | 1996 | 2020 | ||||||||
|
carboxypeptidase E | 0.584 | 0.692 | 0.99 |
|
disease | 0.730 | moderate | 0.923 | 1 | 0 | 1991 | 2013 | ||||||||
|
SIM bHLH transcription factor 1 | 0.626 | 0.654 | 1.00 |
|
disease | 0.700 | strong | 0.955 | 1 | 0 | 1998 | 2019 | ||||||||
|
SH2B adaptor protein 1 | 0.566 | 0.731 | 0.97 |
|
disease | 0.700 | moderate | 0.906 | 1 | 0 | 2009 | 2020 | ||||||||
|
ectonucleotide pyrophosphatase/phosphodiesterase 1 | 0.498 | 0.808 | 5.0E-08 |
|
disease | 0.700 | moderate | 0.786 | 0 | 0 | 2001 | 2019 | ||||||||
|
nuclear receptor subfamily 0 group B member 2 | 0.474 | 0.808 | 8.3E-06 |
|
disease | 0.690 | limited | 1.000 | 0 | 0 | 2001 | 2020 | ||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
disease | 0.660 | strong | 0.833 | 0 | 0 | 2000 | 2013 | ||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
disease | 0.660 | strong | 1.000 | 0 | 0 | 2001 | 2019 | ||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
disease | 0.620 | strong | 1.000 | 0 | 0 | 2002 | 2013 | ||||||||
|
myelin transcription factor 1 like | 0.659 | 0.462 | 1.00 |
|
disease | 0.440 | strong | 1.000 | 2 | 0 | 2011 | 2019 | ||||||||
|
serologically defined colon cancer antigen 8 | 0.619 | 0.577 | 1.2E-11 |
|
disease | 0.440 | strong | 1.000 | 0 | 0 | 2010 | 2019 | ||||||||
|
melanocortin 2 receptor accessory protein 2 | 0.792 | 0.269 | 2.6E-07 |
|
disease | 0.420 | limited | 1.000 | 1 | 0 | 2013 | 2019 | ||||||||
|
Bardet-Biedl syndrome 9 | 0.615 | 0.577 | 4.2E-17 |
|
disease | 0.420 | strong | 1.000 | 0 | 0 | 2007 | 2019 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
disease | 0.420 | strong | 1.000 | 0 | 0 | 2004 | 2006 | ||||||||
|
PHD finger protein 6 | 0.581 | 0.692 | 1.00 |
|
disease | 0.410 | strong | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
disease | 0.410 | strong | 1.000 | 0 | 0 | 2014 | 2014 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
disease | 0.410 | strong | 1.000 | 0 | 0 | 2014 | 2014 | ||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
disease | 0.400 | strong | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 7 | 0.682 | 0.462 | 7.1E-09 |
|
disease | 0.400 | strong | 0 | 0 | |||||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
disease | 0.400 | strong | 0 | 0 | |||||||||||
|
tetratricopeptide repeat domain 8 | 0.631 | 0.500 | 1.2E-06 |
|
disease | 0.400 | strong | 0 | 0 | |||||||||||
|
ADP ribosylation factor like GTPase 6 | 0.636 | 0.462 | 1.0E-02 |
|
disease | 0.400 | strong | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 5 | 0.659 | 0.577 | 4.8E-06 |
|
disease | 0.400 | strong | 0 | 0 |