| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
lysyl-tRNA synthetase 1 | 0.636 | 0.577 | 4.2E-09 |
|
phenotype | 0.300 | strong | 1.000 | 2 | 0 | 2015 | 2017 | ||||||||
|
transformation/transcription domain associated protein | 0.572 | 0.692 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2017 | 2018 | ||||||||
|
phosphate cytidylyltransferase 2, ethanolamine | 0.821 | 0.192 | 8.6E-04 |
|
phenotype | 0.300 | strong | 1.000 | 2 | 0 | 2012 | 2019 | ||||||||
|
zinc finger MIZ-type containing 1 | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
sorting nexin 27 | 0.722 | 0.346 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
WD repeat domain 37 | 0.751 | 0.231 | 0.57 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
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 | ||||||||
|
lanosterol synthase | 0.606 | 0.654 | 1.8E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
KIAA1109 | 0.603 | 0.654 | 3.3E-21 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
netrin G2 | 0.700 | 0.423 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
hexosaminidase subunit beta | 0.644 | 0.654 | 3.5E-10 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1995 | 1995 | ||||||||
|
cut like homeobox 2 | 0.644 | 0.500 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
UDP-glucose pyrophosphorylase 2 | 0.711 | 0.308 | 1.4E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
zinc finger protein 142 | 0.861 | 0.192 | 4.8E-16 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
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 | ||||||||
|
calcium voltage-gated channel subunit alpha1 E | 0.650 | 0.577 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
RAS like proto-oncogene A | 0.656 | 0.577 | 0.97 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
glutamic-oxaloacetic transaminase 2 | 0.529 | 0.731 | 1.4E-02 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
lunapark, ER junction formation factor | 0.716 | 0.346 | 6.2E-04 |
|
phenotype | 0.300 | 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 | ||||||||
|
lysine methyltransferase 2E | 0.682 | 0.423 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
lysine demethylase 3B | 0.686 | 0.500 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
general transcription factor IIIC subunit 3 | 1.000 | 7.0E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 |