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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
trans-golgi network protein 2 | 2.8E-03 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||||
|
Split-hand/foot malformation with long bone deficiency 1 | 1.000 | 0.038 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2013 | 2014 | |||||||||
|
translocase of outer mitochondrial membrane 7 | 1.000 | 0.077 | 9.8E-03 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
macrophthalmia, colobomatous, with microcornea | 1.000 | 0.077 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | |||||||||
|
Split-hand/foot malformation 3 | 0.780 | 0.115 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | |||||||||
|
endogenous retrovirus group MER61 member 1 | 0.890 | 0.115 |
|
group | 0.010 | None | < 0.001 | 1 | 0 | 2013 | 2013 | |||||||||
|
meprin A subunit beta | 0.931 | 0.115 | 1.9E-24 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
orofacial cleft 2 | 0.931 | 0.115 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | |||||||||
|
protogenin | 0.861 | 0.154 | 1.2E-07 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
pyruvate dehydrogenase E1 subunit alpha 2 | 0.890 | 0.154 | 3.9E-09 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
solute carrier family 8 member A2 | 0.780 | 0.154 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
ripply transcriptional repressor 3 | 0.839 | 0.192 | 8.4E-02 |
|
group | 0.020 | None | 0.500 | 2 | 0 | 2011 | 2018 | ||||||||
|
heat shock protein family A (Hsp70) member 4 like | 0.805 | 0.192 | 6.9E-07 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
cadherin 7 | 0.769 | 0.231 | 0.60 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
retention in endoplasmic reticulum sorting receptor 1 | 0.821 | 0.231 | 0.38 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
Zic family member 5 | 0.711 | 0.231 | 0.77 |
|
group | 0.010 | None | < 0.001 | 1 | 0 | 2004 | 2004 | ||||||||
|
vestigial like family member 4 | 0.716 | 0.231 | 7.3E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
BCAS2 pre-mRNA processing factor | 0.769 | 0.269 | 2.8E-08 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
crumbs cell polarity complex component 2 | 0.678 | 0.269 | 1.5E-14 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
inositol hexakisphosphate kinase 1 | 0.792 | 0.269 | 0.93 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
solute carrier family 35 member A3 | 0.716 | 0.308 | 2.6E-03 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2013 | 2017 | ||||||||
|
karyopherin subunit alpha 7 | 0.805 | 0.308 | 3.4E-15 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
katanin regulatory subunit B1 | 0.674 | 0.346 | 1.4E-05 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
Tctex1 domain containing 2 | 0.751 | 0.346 | 3.2E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
kinesin family member 5C | 0.686 | 0.346 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 1 | 2014 | 2014 |