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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ribonuclease H1 pseudogene 1 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | |||||||||||
|
zinc finger and SCAN domain containing 5B | 1.0E-12 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||||
|
nucleoporin 54 | 0.22 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||||
|
WD repeat domain 78 | 4.3E-17 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||||
|
H2A.Z variant histone 2 | 0.47 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||||
|
HERV-H LTR-associating 1 | 1.000 | 0.038 | 2.9E-14 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
BRCA1 pseudogene 1 | 0.931 | 0.077 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | |||||||||
|
SMU1 DNA replication regulator and spliceosomal factor | 1.000 | 0.077 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
ubiquitin specific peptidase 42 | 0.839 | 0.077 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
CENPS-CORT readthrough | 0.861 | 0.115 | 5.8E-06 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
zwilch kinetochore protein | 1.000 | 0.115 | 1.2E-13 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
sulfotransferase family 1A member 2 | 0.890 | 0.115 | 3.7E-12 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
endonuclease/exonuclease/phosphatase family domain containing 1 | 0.890 | 0.115 | 5.5E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
Duane retraction syndrome 1 | 0.839 | 0.154 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2002 | 2002 | |||||||||
|
regulator of G protein signaling 22 | 0.780 | 0.154 | 1.6E-30 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
inflammatory bowel disease 2 | 0.805 | 0.154 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | |||||||||
|
ETAA1 activator of ATR kinase | 0.861 | 0.154 | 7.8E-03 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
Chromosome 13q14 deletion syndrome | 0.805 | 0.192 |
|
group | 0.040 | None | 0.750 | 4 | 0 | 2011 | 2019 | |||||||||
|
Hyperreflexia | 0.695 | 0.192 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 1995 | 2007 | |||||||||
|
SMYD family member 5 | 0.751 | 0.192 | 1.3E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
cysteine and histidine rich domain containing 1 | 0.792 | 0.192 | 0.90 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
centromere protein S | 0.805 | 0.192 | 5.8E-06 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
LYL1 basic helix-loop-helix family member | 0.670 | 0.192 | 0.77 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
mbt domain containing 1 | 0.780 | 0.192 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
ribosomal protein S18 | 0.861 | 0.192 | 0.98 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2020 | 2020 |