| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ATPase plasma membrane Ca2+ transporting 1 | 0.666 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 8 | 10 | 2011 | 2018 | ||||||||
|
Rho GTPase activating protein 42 | 0.792 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 6 | 2011 | 2018 | ||||||||
|
castor zinc finger 1 | 0.553 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 3 | 2016 | 2018 | ||||||||
|
methylenetetrahydrofolate reductase | 0.337 | 0.885 | 3.2E-10 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2011 | 2018 | ||||||||
|
cytochrome P450 family 17 subfamily A member 1 | 0.462 | 0.769 | 2.6E-04 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2013 | 2018 | ||||||||
|
MDS1 and EVI1 complex locus | 0.513 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 3 | 6 | 2011 | 2018 | ||||||||
|
calcium voltage-gated channel auxiliary subunit beta 2 | 0.659 | 0.538 | 2.7E-06 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2011 | 2018 | ||||||||
|
ciliary associated calcium binding coiled-coil 1 | 1.000 | 0.038 | 3.7E-04 |
|
phenotype | 0.100 | None | 1.000 | 3 | 5 | 2011 | 2018 | ||||||||
|
5'-nucleotidase, cytosolic II | 0.537 | 0.846 | 2.1E-06 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2011 | 2018 | ||||||||
|
cut like homeobox 2 | 0.644 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2018 | 2018 | ||||||||
|
T-box transcription factor 2 | 0.544 | 0.769 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2015 | 2018 | ||||||||
|
furin, paired basic amino acid cleaving enzyme | 0.612 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2016 | 2018 | ||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2011 | 2018 | ||||||||
|
lymphocyte specific protein 1 | 0.700 | 0.462 | 1.5E-06 |
|
phenotype | 0.100 | None | 1.000 | 3 | 4 | 2018 | 2018 | ||||||||
|
potassium two pore domain channel subfamily K member 3 | 0.584 | 0.654 | 0.90 |
|
phenotype | 0.100 | None | 1.000 | 3 | 6 | 2018 | 2018 | ||||||||
|
leucine rich repeat containing 10B | 4.5E-02 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2015 | 2018 | ||||||||||
|
solute carrier family 39 member 8 | 0.584 | 0.769 | 0.67 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2011 | 2018 | ||||||||
|
zinc finger protein 831 | 0.792 | 0.192 | 7.9E-10 |
|
phenotype | 0.100 | None | 1.000 | 3 | 4 | 2011 | 2018 | ||||||||
|
pleckstrin homology domain containing A7 | 0.729 | 0.423 | 6.2E-09 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2011 | 2018 | ||||||||
|
BORCS7-ASMT readthrough (NMD candidate) | 0.805 | 0.154 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2014 | 2018 | |||||||||
|
Mov10 RISC complex RNA helicase | 0.760 | 0.308 | 0.81 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2018 | 2018 | ||||||||
|
junctophilin 2 | 0.736 | 0.154 | 4.5E-05 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2018 | 2018 | ||||||||
|
histone deacetylase 4 | 0.484 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2018 | 2018 | ||||||||
|
guanylate cyclase 1 soluble subunit alpha 1 | 0.686 | 0.577 | 3.1E-08 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2011 | 2018 | ||||||||
|
long intergenic non-protein coding RNA 2227 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2011 | 2018 |