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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
hypertrichosis 2 (generalized, congenital) | 0.392 | 0.808 |
|
group | 0.100 | None | 0.962 | 26 | 0 | 2004 | 2019 | |||||||||
|
Hemifacial microsomia | 0.722 | 0.385 |
|
group | 0.040 | None | 1.000 | 4 | 0 | 2001 | 2019 | |||||||||
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2011 | 2012 | |||||||||
|
DiGeorge syndrome chromosome region | 0.678 | 0.538 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 1995 | 2002 | |||||||||
|
Hemihypertrophy | 0.751 | 0.385 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 1976 | 2014 | |||||||||
|
H19/IGF2 imprinting control region | 0.631 | 0.615 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2008 | 2010 | |||||||||
|
ZPA regulatory sequence | 0.722 | 0.269 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2014 | 2016 | |||||||||
|
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | 0.427 | 0.885 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 1982 | 1991 | |||||||||
|
homeobox D cluster | 0.631 | 0.538 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2007 | 2011 | |||||||||
|
Split-hand/foot malformation with long bone deficiency 1 | 1.000 | 0.038 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2013 | 2014 | |||||||||
|
Split-hand/foot malformation 3 | 0.780 | 0.115 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | |||||||||
|
microRNA 876 | 0.666 | 0.385 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | |||||||||
|
microRNA 873 | 0.601 | 0.538 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | |||||||||
|
CD24 molecule | 0.472 | 0.769 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | |||||||||
|
Trichoepithelioma, multiple familial, 2 | 0.601 | 0.692 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||||||
|
double homeobox 4 | 0.604 | 0.500 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | |||||||||
|
Corneal dystrophy, Fuchs endothelial, 3 | 0.769 | 0.385 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | |||||||||
|
long intergenic non-protein coding RNA 1672 | 0.462 | 0.846 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | |||||||||
|
TMX2-CTNND1 readthrough (NMD candidate) | 0.538 | 0.769 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||||||
|
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome | 0.716 | 0.538 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | |||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | |||||||||
|
myomixer, myoblast fusion factor | 0.700 | 0.500 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | |||||||||
|
cystathionine beta-synthase like | 0.540 | 0.808 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | |||||||||
|
KCNQ1 opposite strand/antisense transcript 1 | 0.534 | 0.731 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2002 | 2002 | |||||||||
|
H3 histone pseudogene 9 | 0.505 | 0.731 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 |