| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
N-ethylmaleimide sensitive factor, vesicle fusing ATPase | 0.659 | 0.577 | 1.8E-02 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
adaptor related protein complex 3 subunit delta 1 | 0.678 | 0.385 | 0.99 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
casein kinase 2 alpha 1 | 0.597 | 0.731 | 0.99 |
|
phenotype | 0.310 | limited | 1.000 | 1 | 0 | 2016 | 2019 | ||||||||
|
transient receptor potential cation channel subfamily M member 3 | 0.663 | 0.769 | 5.7E-07 |
|
phenotype | 0.400 | moderate | 1.000 | 2 | 0 | 2017 | 2019 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
fukutin related protein | 0.513 | 0.731 | 9.8E-06 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
lunapark, ER junction formation factor | 0.716 | 0.346 | 6.2E-04 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
fumarate hydratase | 0.489 | 0.846 | 8.8E-02 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
farnesyl-diphosphate farnesyltransferase 1 | 0.621 | 0.615 | 4.1E-15 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
caseinolytic mitochondrial matrix peptidase chaperone subunit B | 0.631 | 0.654 | 5.0E-04 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 0.861 | 0.154 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
zinc finger MIZ-type containing 1 | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class P | 0.633 | 0.462 | 1.9E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
lanosterol synthase | 0.606 | 0.654 | 1.8E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
lysine demethylase 3B | 0.686 | 0.500 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
tubulin alpha 8 | 0.691 | 0.385 | 3.6E-05 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
glutamate ionotropic receptor AMPA type subunit 2 | 0.573 | 0.692 | 1.00 |
|
phenotype | 0.360 | moderate | 1.000 | 1 | 0 | 2001 | 2019 | ||||||||
|
ADP-ribosylserine hydrolase | 0.743 | 0.308 | 5.8E-04 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
transmembrane protein 70 | 0.636 | 0.654 | 2.9E-02 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
secretory carrier membrane protein 5 | 0.839 | 0.192 | 0.65 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
dolichyl-phosphate mannosyltransferase subunit 2, regulatory | 0.666 | 0.500 | 0.32 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
general transcription factor IIIC subunit 3 | 1.000 | 7.0E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 |