| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
otoraplin | 0.805 | 0.154 | 4.9E-03 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
RAS guanyl releasing protein 2 | 0.769 | 0.231 | 0.24 |
|
group | 0.050 | None | 1.000 | 5 | 0 | 2016 | 2020 | ||||||||
|
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | 0.716 | 0.269 | 0.10 |
|
group | 0.060 | None | 1.000 | 6 | 0 | 2005 | 2013 | ||||||||
|
stonin 1 | 0.729 | 0.308 | 1.5E-11 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
ankyrin repeat domain 26 | 0.711 | 0.308 | 3.6E-24 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | 0.769 | 0.308 | 2.8E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
zinc finger protein 160 | 0.805 | 0.346 | 2.8E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
solute carrier family 25 member 15 | 0.711 | 0.346 | 3.7E-07 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
general transcription factor IIA subunit 1 like | 0.678 | 0.385 | 2.8E-11 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
STON1-GTF2A1L readthrough | 0.682 | 0.385 | 1.5E-22 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | 0.743 | 0.385 | 1.4E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase | 0.716 | 0.385 | 1.5E-16 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
aldo-keto reductase family 1 member D1 | 0.711 | 0.385 | 1.7E-07 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | 0.700 | 0.385 | 2.7E-08 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
serine active site containing 1 | 0.686 | 0.385 | 3.9E-06 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
lectin, mannose binding 1 | 0.716 | 0.423 | 4.3E-03 |
|
group | 0.080 | None | 1.000 | 8 | 0 | 1999 | 2013 | ||||||||
|
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | 0.674 | 0.423 | 1.9E-13 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
microfibril associated protein 2 | 0.769 | 0.423 | 4.3E-06 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
signal sequence receptor subunit 4 | 0.705 | 0.423 | 0.87 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
adenylate kinase 3 | 0.691 | 0.462 | 1.1E-04 |
|
group | 0.060 | None | 1.000 | 6 | 0 | 2006 | 2017 | ||||||||
|
glycoprotein IX platelet | 0.695 | 0.500 | 0.48 |
|
group | 0.040 | None | 1.000 | 4 | 0 | 1998 | 2010 | ||||||||
|
growth factor independent 1B transcriptional repressor | 0.623 | 0.500 | 5.2E-04 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2013 | 2019 | ||||||||
|
ras homolog family member F, filopodia associated | 0.638 | 0.500 | 1.8E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
proline rich protein HaeIII subfamily 1 | 0.659 | 0.500 | 7.2E-03 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
proline rich protein HaeIII subfamily 2 | 0.663 | 0.500 | 1.2E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 |