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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | 0.743 | 0.385 | 1.4E-04 |
|
group | 0.300 | strong | 1.000 | 1 | 0 | 2002 | 2002 | ||||||||
|
ELMO domain containing 2 | 0.890 | 0.038 | 0.42 |
|
group | 0.300 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | 0.636 | 0.692 | 1.3E-07 |
|
group | 0.310 | strong | 1.000 | 1 | 0 | 1996 | 2017 | ||||||||
|
adaptor related protein complex 3 subunit beta 1 | 0.619 | 0.808 | 0.62 |
|
group | 0.320 | strong | 1.000 | 1 | 0 | 1999 | 2018 | ||||||||
|
telomerase reverse transcriptase | 0.374 | 0.846 | 0.99 |
|
group | 0.370 | strong | 1.000 | 1 | 0 | 2007 | 2018 | ||||||||
|
sodium channel epithelial 1 subunit alpha | 0.601 | 0.577 | 1.1E-11 |
|
group | 0.510 | limited | 1.000 | 0 | 0 | 2004 | 2017 | ||||||||
|
sodium channel epithelial 1 subunit beta | 0.628 | 0.577 | 5.8E-08 |
|
group | 0.530 | limited | 1.000 | 0 | 0 | 2005 | 2019 | ||||||||
|
signal transducer and activator of transcription 3 | 0.320 | 0.923 | 1.00 |
|
group | 0.330 | limited | 1.000 | 0 | 0 | 2007 | 2019 | ||||||||
|
sodium channel epithelial 1 subunit gamma | 0.633 | 0.577 | 0.48 |
|
group | 0.310 | limited | 1.000 | 0 | 0 | 2006 | 2006 | ||||||||
|
folliculin | 0.537 | 0.885 | 0.79 |
|
group | 0.310 | limited | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
elastin | 0.415 | 0.885 | 2.1E-14 |
|
group | 0.320 | limited | 1.000 | 0 | 0 | 2005 | 2012 | ||||||||
|
endoglin | 0.446 | 0.846 | 1.00 |
|
group | 0.310 | limited | 1.000 | 0 | 0 | 2014 | 2014 | ||||||||
|
serpin family A member 1 | 0.410 | 0.923 | 6.8E-08 |
|
group | 0.600 | limited | 0.983 | 0 | 0 | 1982 | 2019 | ||||||||
|
radial spoke head component 4A | 0.666 | 0.538 | 7.6E-11 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
paired like homeobox 2B | 0.565 | 0.731 | 0.94 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
dynein axonemal heavy chain 11 | 0.587 | 0.692 | 2.5E-58 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
dynein axonemal assembly factor 1 | 0.633 | 0.654 | 8.5E-12 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
latent transforming growth factor beta binding protein 4 | 0.604 | 0.654 | 0.50 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
dynein axonemal light chain 1 | 0.682 | 0.500 | 8.9E-03 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
dedicator of cytokinesis 8 | 0.578 | 0.731 | 1.5E-11 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
dynein axonemal heavy chain 5 | 0.590 | 0.692 | 4.9E-64 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
endothelin 3 | 0.608 | 0.577 | 2.5E-02 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
dynein axonemal intermediate chain 2 | 0.666 | 0.500 | 9.5E-13 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
radial spoke head component 9 | 0.659 | 0.615 | 2.4E-09 |
|
group | 0.300 | limited | 0 | 0 | |||||||||||
|
glial cell derived neurotrophic factor | 0.434 | 0.885 | 0.20 |
|
group | 0.300 | limited | 0 | 0 |