| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1993 | 2016 | ||||||||
|
laminin subunit gamma 3 | 0.722 | 0.308 | 1.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2011 | 2015 | ||||||||
|
WD repeat domain 62 | 0.597 | 0.615 | 2.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 5 | 2 | 2010 | 2018 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 1 | 1993 | 2015 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2013 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class N | 0.558 | 0.615 | 2.3E-21 |
|
phenotype | 0.100 | None | 1.000 | 11 | 2 | 1999 | 2016 | ||||||||
|
collagen type VI alpha 3 chain | 0.563 | 0.769 | 1.8E-20 |
|
phenotype | 0.100 | None | 1.000 | 13 | 1 | 2001 | 2016 | ||||||||
|
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 0.592 | 0.731 | 7.7E-19 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 2005 | 2016 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2007 | 2013 | ||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
phenotype | 0.100 | None | 1.000 | 12 | 3 | 1997 | 2017 | ||||||||
|
Bardet-Biedl syndrome 9 | 0.615 | 0.577 | 4.2E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transient receptor potential cation channel subfamily V member 4 | 0.457 | 0.808 | 2.2E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | ||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
KIAA0586 | 0.565 | 0.731 | 5.1E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mitochondrial intermediate peptidase | 0.666 | 0.615 | 1.6E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
coiled-coil domain containing 151 | 0.659 | 0.577 | 3.5E-15 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1994 | 2014 | ||||||||
|
collagen type IV alpha 2 chain | 0.563 | 0.654 | 3.6E-15 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2012 | 2016 | ||||||||
|
centrosomal protein 120 | 0.564 | 0.731 | 4.1E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 1.000 | 7 | 4 | 2004 | 2015 | ||||||||
|
elastin | 0.415 | 0.885 | 2.1E-14 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1994 | 2017 | ||||||||
|
transmembrane protein 94 | 0.628 | 0.654 | 2.8E-14 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
sodium leak channel, non-selective | 0.587 | 0.615 | 8.5E-14 |
|
phenotype | 0.100 | None | 1.000 | 9 | 2 | 2013 | 2017 | ||||||||
|
metabolism of cobalamin associated C | 0.644 | 0.615 | 1.1E-13 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2006 | 2015 |