| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
CHURC1-FNTB readthrough | 5.3E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2017 | ||||||||||
|
farnesyltransferase, CAAX box, beta | 1.000 | 0.077 | 7.9E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2017 | ||||||||
|
family with sequence similarity 234 member A | 1.000 | 0.077 | 1.5E-12 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2019 | ||||||||
|
mediator complex subunit 20 | 0.861 | 0.077 | 0.30 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2012 | 2016 | ||||||||
|
LUC7 like | 0.861 | 0.115 | 0.47 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2016 | ||||||||
|
coiled-coil domain containing 162, pseudogene | 0.890 | 0.154 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2018 | |||||||||
|
RNA terminal phosphate cyclase like 1 | 0.792 | 0.192 | 5.9E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2009 | 2018 | ||||||||
|
ubiquitin specific peptidase 49 | 0.861 | 0.192 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2012 | 2018 | ||||||||
|
hemoglobin subunit epsilon 1 | 0.686 | 0.269 | 2.0E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
H2A clustered histone 6 | 0.821 | 0.269 | 0.60 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2012 | 2012 | ||||||||
|
H2B clustered histone 4 | 0.760 | 0.269 | 3.8E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2012 | 2012 | ||||||||
|
potassium channel tetramerization domain containing 17 | 0.743 | 0.308 | 1.8E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
solute carrier family 17 member 3 | 0.769 | 0.385 | 4.9E-22 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2009 | 2012 | ||||||||
|
G-patch domain and ankyrin repeats 1 | 0.769 | 0.385 | 3.2E-07 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
NPR3 like, GATOR1 complex subunit | 0.678 | 0.385 | 0.19 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2018 | ||||||||
|
HBS1 like translational GTPase | 0.705 | 0.462 | 1.9E-07 |
|
phenotype | 0.100 | None | 1.000 | 3 | 4 | 2009 | 2018 | ||||||||
|
EHMT2 and SLC44A4 antisense RNA 1 | 0.780 | 0.462 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | |||||||||
|
solute carrier family 17 member 1 | 0.760 | 0.462 | 4.1E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
membrane palmitoylated protein 1 | 0.617 | 0.500 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
capping protein regulator and myosin 1 linker 1 | 0.722 | 0.500 | 3.4E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2012 | 2012 | ||||||||
|
serine/threonine kinase 19 | 0.691 | 0.500 | 6.7E-09 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
transferrin receptor 2 | 0.585 | 0.615 | 1.3E-09 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2017 | ||||||||
|
transmembrane serine protease 6 | 0.584 | 0.654 | 4.1E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 7 | 2009 | 2019 | ||||||||
|
cyclin D3 | 0.554 | 0.654 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2009 | 2018 | ||||||||
|
hook microtubule tethering protein 2 | 0.659 | 0.654 | 4.6E-18 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2017 |